First we need some R libraries:
#remotes::install_github("https://github.com/monarch-initiative/monarchr", ref = "engines")
suppressMessages({
library(monarchr)
library(ggraph)
library(stringr) # for str_wrap
library(tidygraph) # activate() etc.
})
Let’s start by looking for Alzheimer’s. We’ll use the search here in R to see what we can see:
monarch_engine() |>
search_nodes("Alzheimer")
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) |
---|---|---|---|---|---|---|---|---|
“MONDO:0011743” | “biolink:Disease” | “Alzheimer disease 4” | “Alzheimer’s disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.” | c(“AD4”, “Ad4”, “Alzheimer disease 4”, “Alzheimer disease familial type 4”, “Alzheimer disease type 4”, “Alzheimer disease, familial, 4”, “Alzheimer disease, familial4”, “Alzheimer disease-4”, “Alzheimer’s disease 4”, “Alzheimer’s disease type 4”, “familial Alzheimer disease, type 4”, “familial Alzheimer’s disease, type 4”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011743” | c(“DOID:0110040”, “GARD:16511”, “MESH:C536596”, “NCIT:C123413”, “OMIM:606889”, “UMLS:C1847200”) | “phenio_nodes” |
“MONDO:0007089” | “biolink:Disease” | “Alzheimer disease 2” | “An Alzheimer’s disease that is characterized by an association of the apolipoprotein E E4 allele.” | c(“AD2”, “Alzheimer disease 2”, “Alzheimer disease 2, late onset”, “Alzheimer disease 2, late-onset”, “Alzheimer disease associated with APOE E4”, “Alzheimer disease associated with APOE4”, “Alzheimer disease type 2”, “Alzheimer disease-2”, “Alzheimer’s disease 2”, “Alzheimer’s disease type 2”, “LOFAD”, “late onset Alzheimer disease”, “late onset familial Alzheimer disease”, “late-onset familial alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0007089” | c(“DOID:0110035”, “GARD:12799”, “MESH:C536595”, “OMIM:104310”, “UMLS:C1863051”) | “phenio_nodes” |
“MONDO:0014265” | “biolink:Disease” | “Alzheimer disease 18” | “Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.” | c(“AD18”, “ADAM10 Alzheimer disease”, “Alzheimer disease 18”, “Alzheimer disease 18, late-onset”, “Alzheimer disease 18, susceptibility to”, “Alzheimer disease caused by mutation in ADAM10”, “Alzheimer disease type 18”, “Alzheimer’s disease 18”, “Alzheimer’s disease type 18”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014265” | c(“DOID:0110050”, “OMIM:615590”, “UMLS:C3810041”) | “phenio_nodes” |
“MONDO:0011913” | “biolink:Disease” | “Alzheimer disease 3” | “Alzheimer’s disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.” | c(“AD”, “AD3”, “Alzheimer disease 3”, “Alzheimer disease 3, early onset”, “Alzheimer disease 3, early-onset”, “Alzheimer disease early onset type 3”, “Alzheimer disease familial 3”, “Alzheimer disease type 3”, “Alzheimer disease, familial, 3”, “Alzheimer disease, familial, 3, with spastic paraparesis and apraxia”, “Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques”, “Alzheimer disease, protection against, due to APOE3-Christchurch”, “Alzheimer disease, type 3”, “Alzheimer disease, type 3, with spastic paraparesis and apraxia”, “Alzheimer disease, type 3, with spastic paraparesis and unusual plaques”, “Alzheimer’s disease 3”, “Alzheimer’s disease type 3”, “PSEN1 early-onset autosomal dominant Alzheimer disease”, “early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1”, “familial Alzheimer disease, type 3”, “familial Alzheimer’s disease, type 3”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011913” | c(“DOID:0110042”, “GARD:16513”, “MESH:C536598”, “NCIT:C123412”, “OMIM:607822”) | “phenio_nodes” |
“MONDO:0004975” | “biolink:Disease” | “Alzheimer disease” | “A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.” | c(“AD”, “Alzheimer dementia”, “Alzheimer disease”, “Alzheimer disease, familial”, “Alzheimer’s dementia”, “Alzheimer’s disease”, “Alzheimers dementia”, “Alzheimers disease”, “presenile and senile dementia”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0004975” | c(“DOID:10652”, “HP:0002511”, “ICD10CM:G30”, “ICD9:290.1”, “ICD9:331.0”, “MESH:D000544”, “NCIT:C2866”, “NIFSTD:birnlex_2092”, “Orphanet:238616”, “SCTID:142811000119104”, “UMLS:C0002395”) | “phenio_nodes” |
“MONDO:0010422” | “biolink:Disease” | “Alzheimer disease 16” | “An Alzheimer’s disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.” | c(“AD16”, “Alzheimer disease 16”, “Alzheimer’s disease 16”, “Alzheimer’s disease type 16”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0010422” | c(“DOID:0110036”, “MESH:C567463”, “OMIM:300756”, “UMLS:C2677888”) | “phenio_nodes” |
“MONDO:0011194” | “biolink:Disease” | “Alzheimer disease 5” | NA | c(“AD5”, “Ad5”, “Alzheimer disease 5”, “Alzheimer disease type 5”, “Alzheimer disease, familial 5”, “Alzheimer disease, familial, 5”, “Alzheimer disease-5”, “Alzheimer’s disease 5”, “Alzheimer’s disease type 5”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011194” | c(“DOID:0110037”, “GARD:16507”, “MESH:C566578”, “OMIM:602096”, “UMLS:C1865868”) | “phenio_nodes” |
“MONDO:0011561” | “biolink:Disease” | “Alzheimer disease 6” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 10q24.” | c(“AD6”, “Alzheimer disease 6”, “Alzheimer disease 6, late onset”, “Alzheimer disease 6, late-onset”, “Alzheimer disease type 6”, “Alzheimer’s disease 6”, “Alzheimer’s disease type 6”, “plasma Beta-amyloid-42 level quantitative trait locus”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011561” | c(“DOID:0110038”, “GARD:16509”, “MESH:C565325”, “OMIM:605526”) | “phenio_nodes” |
“MONDO:0011777” | “biolink:Disease” | “Alzheimer disease 8” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 20p12.2-q11.21.” | c(“AD8”, “Ad8”, “Alzheimer disease 8”, “Alzheimer disease type 8”, “Alzheimer disease, familial 8”, “Alzheimer disease, familial, 8”, “Alzheimer’s disease 8”, “Alzheimer’s disease type 8”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011777” | c(“DOID:0110041”, “GARD:16512”, “MESH:C564622”, “OMIM:607116”, “UMLS:C1846735”) | “phenio_nodes” |
“MONDO:0012631” | “biolink:Disease” | “Alzheimer disease 14” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 1q25.” | c(“AD14”, “Alzheimer disease 14”, “Alzheimer disease-14”, “Alzheimer’s disease 14”, “Alzheimer’s disease type 14”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012631” | c(“DOID:0110047”, “GARD:16518”, “MESH:C566999”, “OMIM:611154”, “UMLS:C1970144”) | “phenio_nodes” |
There it is, MONDO:0004975
. Let’s get it and all the
descendants, and make a quick plot. We’ll investigate the phenotypes
connected to these below.
alz <- monarch_engine() |>
fetch_nodes(query_ids = "MONDO:0004975") |> # Down
expand(predicates = "biolink:subclass_of", direction = "in", transitive = TRUE)
alz
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) |
---|---|---|---|---|---|---|---|---|
“MONDO:0004975” | “biolink:Disease” | “Alzheimer disease” | “A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.” | c(“AD”, “Alzheimer dementia”, “Alzheimer disease”, “Alzheimer disease, familial”, “Alzheimer’s dementia”, “Alzheimer’s disease”, “Alzheimers dementia”, “Alzheimers disease”, “presenile and senile dementia”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0004975” | c(“DOID:10652”, “HP:0002511”, “ICD10CM:G30”, “ICD9:290.1”, “ICD9:331.0”, “MESH:D000544”, “NCIT:C2866”, “NIFSTD:birnlex_2092”, “Orphanet:238616”, “SCTID:142811000119104”, “UMLS:C0002395”) | “phenio_nodes” |
“MONDO:0014265” | “biolink:Disease” | “Alzheimer disease 18” | “Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.” | c(“AD18”, “ADAM10 Alzheimer disease”, “Alzheimer disease 18”, “Alzheimer disease 18, late-onset”, “Alzheimer disease 18, susceptibility to”, “Alzheimer disease caused by mutation in ADAM10”, “Alzheimer disease type 18”, “Alzheimer’s disease 18”, “Alzheimer’s disease type 18”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014265” | c(“DOID:0110050”, “OMIM:615590”, “UMLS:C3810041”) | “phenio_nodes” |
“MONDO:0014036” | “biolink:Disease” | “Alzheimer disease 17” | “An Alzheimer’s disease that is characterized by an associated with mutations in the gene TREM2.” | c(“AD17”, “Alzheimer disease 17”, “Alzheimer disease 17, late onset”, “Alzheimer disease 17, late-onset”, “Alzheimer’s disease 17”, “Alzheimer’s disease type 17”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014036” | c(“DOID:0110049”, “OMIM:615080”, “UMLS:C3554452”) | “phenio_nodes” |
“MONDO:0010422” | “biolink:Disease” | “Alzheimer disease 16” | “An Alzheimer’s disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.” | c(“AD16”, “Alzheimer disease 16”, “Alzheimer’s disease 16”, “Alzheimer’s disease type 16”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0010422” | c(“DOID:0110036”, “MESH:C567463”, “OMIM:300756”, “UMLS:C2677888”) | “phenio_nodes” |
“MONDO:0100087” | “biolink:Disease” | “familial Alzheimer disease” | “A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.” | c(“Alzheimer disease, familial”, “FAD”, “GARD:0000632”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0100087” | NA | “phenio_nodes” |
“MONDO:0007089” | “biolink:Disease” | “Alzheimer disease 2” | “An Alzheimer’s disease that is characterized by an association of the apolipoprotein E E4 allele.” | c(“AD2”, “Alzheimer disease 2”, “Alzheimer disease 2, late onset”, “Alzheimer disease 2, late-onset”, “Alzheimer disease associated with APOE E4”, “Alzheimer disease associated with APOE4”, “Alzheimer disease type 2”, “Alzheimer disease-2”, “Alzheimer’s disease 2”, “Alzheimer’s disease type 2”, “LOFAD”, “late onset Alzheimer disease”, “late onset familial Alzheimer disease”, “late-onset familial alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0007089” | c(“DOID:0110035”, “GARD:12799”, “MESH:C536595”, “OMIM:104310”, “UMLS:C1863051”) | “phenio_nodes” |
“MONDO:0015140” | “biolink:Disease” | “early-onset autosomal dominant Alzheimer disease” | “A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.” | c(“EOFAD”, “early-onset familial autosomal dominant Alzheimer disease”, “early-onset, autosomal dominant Alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0015140” | c(“GARD:12798”, “Orphanet:1020”) | “phenio_nodes” |
“MONDO:0011561” | “biolink:Disease” | “Alzheimer disease 6” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 10q24.” | c(“AD6”, “Alzheimer disease 6”, “Alzheimer disease 6, late onset”, “Alzheimer disease 6, late-onset”, “Alzheimer disease type 6”, “Alzheimer’s disease 6”, “Alzheimer’s disease type 6”, “plasma Beta-amyloid-42 level quantitative trait locus”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011561” | c(“DOID:0110038”, “GARD:16509”, “MESH:C565325”, “OMIM:605526”) | “phenio_nodes” |
“MONDO:0012631” | “biolink:Disease” | “Alzheimer disease 14” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 1q25.” | c(“AD14”, “Alzheimer disease 14”, “Alzheimer disease-14”, “Alzheimer’s disease 14”, “Alzheimer’s disease type 14”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012631” | c(“DOID:0110047”, “GARD:16518”, “MESH:C566999”, “OMIM:611154”, “UMLS:C1970144”) | “phenio_nodes” |
“MONDO:0011777” | “biolink:Disease” | “Alzheimer disease 8” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 20p12.2-q11.21.” | c(“AD8”, “Ad8”, “Alzheimer disease 8”, “Alzheimer disease type 8”, “Alzheimer disease, familial 8”, “Alzheimer disease, familial, 8”, “Alzheimer’s disease 8”, “Alzheimer’s disease type 8”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011777” | c(“DOID:0110041”, “GARD:16512”, “MESH:C564622”, “OMIM:607116”, “UMLS:C1846735”) | “phenio_nodes” |
“MONDO:0011194” | “biolink:Disease” | “Alzheimer disease 5” | NA | c(“AD5”, “Ad5”, “Alzheimer disease 5”, “Alzheimer disease type 5”, “Alzheimer disease, familial 5”, “Alzheimer disease, familial, 5”, “Alzheimer disease-5”, “Alzheimer’s disease 5”, “Alzheimer’s disease type 5”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011194” | c(“DOID:0110037”, “GARD:16507”, “MESH:C566578”, “OMIM:602096”, “UMLS:C1865868”) | “phenio_nodes” |
“MONDO:0012630” | “biolink:Disease” | “Alzheimer disease 13” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 1q21.” | c(“AD13”, “Alzheimer disease 13”, “Alzheimer disease-13”, “Alzheimer’s disease 13”, “Alzheimer’s disease type 13”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012630” | c(“DOID:0110046”, “GARD:16517”, “MESH:C567000”, “OMIM:611152”, “UMLS:C1970147”) | “phenio_nodes” |
“MONDO:0011401” | “biolink:Disease” | “Alzheimer disease without neurofibrillary tangles” | NA | c(“AD15”, “Alzheimer disease 15”, “Alzheimer disease without neurofibrillary tangles”, “Alzheimer disease-15”, “Alzheimer’s disease 15”, “Alzheimer’s disease type 15”, “Alzheimer’s disease without neurofibrillary tangles”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011401” | c(“DOID:0110048”, “GARD:7190”, “MESH:C536599”, “MESH:C566998”, “OMIM:604154”, “OMIM:611155”, “UMLS:C1858751”) | “phenio_nodes” |
“MONDO:0012344” | “biolink:Disease” | “Alzheimer disease 11” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 9p22.1.” | c(“AD11”, “Ad11”, “Alzheimer disease 11”, “Alzheimer disease type 11”, “Alzheimer disease, familial, 11”, “Alzheimer disease-11”, “Alzheimer’s disease 11”, “Alzheimer’s disease type 11”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012344” | c(“DOID:0110044”, “GARD:16515”, “MESH:C565228”, “OMIM:609790”, “UMLS:C1853360”) | “phenio_nodes” |
“MONDO:0011513” | “biolink:Disease” | “Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology” | NA | “Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology” | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011513” | c(“GARD:16508”, “MESH:C565728”, “OMIM:605055”, “UMLS:C1857933”) | “phenio_nodes” |
“MONDO:0011913” | “biolink:Disease” | “Alzheimer disease 3” | “Alzheimer’s disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.” | c(“AD”, “AD3”, “Alzheimer disease 3”, “Alzheimer disease 3, early onset”, “Alzheimer disease 3, early-onset”, “Alzheimer disease early onset type 3”, “Alzheimer disease familial 3”, “Alzheimer disease type 3”, “Alzheimer disease, familial, 3”, “Alzheimer disease, familial, 3, with spastic paraparesis and apraxia”, “Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques”, “Alzheimer disease, protection against, due to APOE3-Christchurch”, “Alzheimer disease, type 3”, “Alzheimer disease, type 3, with spastic paraparesis and apraxia”, “Alzheimer disease, type 3, with spastic paraparesis and unusual plaques”, “Alzheimer’s disease 3”, “Alzheimer’s disease type 3”, “PSEN1 early-onset autosomal dominant Alzheimer disease”, “early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1”, “familial Alzheimer disease, type 3”, “familial Alzheimer’s disease, type 3”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011913” | c(“DOID:0110042”, “GARD:16513”, “MESH:C536598”, “NCIT:C123412”, “OMIM:607822”) | “phenio_nodes” |
“MONDO:0011743” | “biolink:Disease” | “Alzheimer disease 4” | “Alzheimer’s disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.” | c(“AD4”, “Ad4”, “Alzheimer disease 4”, “Alzheimer disease familial type 4”, “Alzheimer disease type 4”, “Alzheimer disease, familial, 4”, “Alzheimer disease, familial4”, “Alzheimer disease-4”, “Alzheimer’s disease 4”, “Alzheimer’s disease type 4”, “familial Alzheimer disease, type 4”, “familial Alzheimer’s disease, type 4”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011743” | c(“DOID:0110040”, “GARD:16511”, “MESH:C536596”, “NCIT:C123413”, “OMIM:606889”, “UMLS:C1847200”) | “phenio_nodes” |
“MONDO:0007088” | “biolink:Disease” | “Alzheimer disease type 1” | NA | c(“AD”, “AD1”, “Alzheimer disease”, “Alzheimer disease 1”, “Alzheimer disease 1, familial”, “Alzheimer disease, early-onset, with cerebral amyloid angiopathy”, “Alzheimer disease, familial, 1”, “Alzheimer disease, late-onset, susceptibility to”, “Alzheimer disease, protection against”, “Alzheimer disease, susceptibility to”, “early-onset familial form of Alzheimer disease”, “presenile and senile dementia”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0007088” | c(“DECIPHER:48”, “DOID:0080348”, “GARD:9465”, “MESH:C536594”, “OMIM:104300”, “UMLS:C1863052”) | “phenio_nodes” |
“MONDO:0012321” | “biolink:Disease” | “Alzheimer disease 10” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 7q36.” | c(“AD10”, “Ad10”, “Alzheimer disease 10”, “Alzheimer disease familial 10”, “Alzheimer disease type 10”, “Alzheimer disease, familial, 10”, “Alzheimer disease-10”, “Alzheimer’s disease 10”, “Alzheimer’s disease type 10”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012321” | c(“DOID:0110043”, “GARD:16514”, “MESH:C566465”, “OMIM:609636”, “UMLS:C1864828”) | “phenio_nodes” |
“MONDO:0011647” | “biolink:Disease” | “Alzheimer disease 7” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 10p13.” | c(“AD7”, “Ad7”, “Alzheimer disease 7”, “Alzheimer disease type 7”, “Alzheimer disease, familial 7”, “Alzheimer disease, familial, 7”, “Alzheimer disease-7”, “Alzheimer’s disease 7”, “Alzheimer’s disease type 7”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011647” | c(“DOID:0110039”, “GARD:16510”, “MESH:C565251”, “OMIM:606187”, “UMLS:C1853555”) | “phenio_nodes” |
“MONDO:0012609” | “biolink:Disease” | “Alzheimer disease 12” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 8p12-q22.” | c(“AD12”, “Ad12”, “Alzheimer disease 12”, “Alzheimer disease familial 12”, “Alzheimer disease type 12”, “Alzheimer disease, familial, 12”, “Alzheimer’s disease 12”, “Alzheimer’s disease type 12”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012609” | c(“DOID:0110045”, “GARD:16516”, “MESH:C567022”, “OMIM:611073”, “UMLS:C1970209”) | “phenio_nodes” |
“MONDO:0014316” | “biolink:Disease” | “Alzheimer disease 19” | “Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.” | c(“AD19”, “Alzheimer disease 19”, “Alzheimer disease 19 late onset”, “Alzheimer disease 19, late-onset”, “Alzheimer disease caused by mutation in PLD3”, “Alzheimer disease type 19”, “Alzheimer’s disease 19”, “Alzheimer’s disease type 19”, “PLD3 Alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014316” | c(“DOID:0110051”, “OMIM:615711”, “UMLS:C3810349”) | “phenio_nodes” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “MONDO:0014265” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:d2d2475a-e0d3-420d-8443-d6fa723024ef” | c(“biolink:Association”, “biolink:Entity”) |
3 | 1 | “MONDO:0014036” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:e80e1092-3d6c-4166-a714-61d12c5caec3” | c(“biolink:Association”, “biolink:Entity”) |
4 | 1 | “MONDO:0010422” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:67b0b9ad-74a8-4741-b78e-52df1eca4f9a” | c(“biolink:Association”, “biolink:Entity”) |
5 | 1 | “MONDO:0100087” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:82f918cc-661e-4796-bd8d-907636fe574d” | c(“biolink:Association”, “biolink:Entity”) |
6 | 5 | “MONDO:0007089” | “biolink:subclass_of” | “MONDO:0100087” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:93b5b831-991b-45e0-836d-f041b2eba5bf” | c(“biolink:Association”, “biolink:Entity”) |
7 | 5 | “MONDO:0015140” | “biolink:subclass_of” | “MONDO:0100087” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:cb934996-2fda-44ad-92ba-fdd281cd36ed” | c(“biolink:Association”, “biolink:Entity”) |
8 | 7 | “MONDO:0011561” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:39820122-6d69-4e35-99f3-e0dceeed27e8” | c(“biolink:Association”, “biolink:Entity”) |
9 | 7 | “MONDO:0012631” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:6e7f8e43-2b59-4b98-8edb-9359aa540567” | c(“biolink:Association”, “biolink:Entity”) |
10 | 7 | “MONDO:0011777” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:e8b7556e-dbfb-4ba6-8fc6-7d511dfbd073” | c(“biolink:Association”, “biolink:Entity”) |
11 | 7 | “MONDO:0011194” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:02314a7a-c5fe-4b09-9f38-de1e164a8854” | c(“biolink:Association”, “biolink:Entity”) |
12 | 7 | “MONDO:0012630” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:e67bc0ca-a0b1-4885-b4ee-1a180a06a9d3” | c(“biolink:Association”, “biolink:Entity”) |
13 | 7 | “MONDO:0011401” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:1961154e-7587-4925-8813-1eeb4397c3bd” | c(“biolink:Association”, “biolink:Entity”) |
14 | 7 | “MONDO:0012344” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:ec9e2531-6d96-4fc5-8cf5-2e94f98ada0d” | c(“biolink:Association”, “biolink:Entity”) |
15 | 7 | “MONDO:0011513” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:f6ac44ec-9166-47ed-898a-fc3dd5513d32” | c(“biolink:Association”, “biolink:Entity”) |
16 | 7 | “MONDO:0011913” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:702ab7dc-d974-42a4-82f2-92055ded402a” | c(“biolink:Association”, “biolink:Entity”) |
17 | 7 | “MONDO:0011743” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:08543c6c-4e06-4f75-b2ce-e4e037c2b4bf” | c(“biolink:Association”, “biolink:Entity”) |
18 | 7 | “MONDO:0007088” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:0fbdcc9d-e3e0-4080-9db9-6db1d50a7593” | c(“biolink:Association”, “biolink:Entity”) |
19 | 7 | “MONDO:0012321” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:4893dbb6-8831-429d-bd42-1c09d8ffeb30” | c(“biolink:Association”, “biolink:Entity”) |
20 | 7 | “MONDO:0011647” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:4beca5c8-3e5b-4ef8-9597-f5ce8e6ec54b” | c(“biolink:Association”, “biolink:Entity”) |
21 | 7 | “MONDO:0012609” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:df37358a-39de-44e4-ab2f-b6a8ff54889b” | c(“biolink:Association”, “biolink:Entity”) |
22 | 1 | “MONDO:0014316” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:8fbb9c58-fcb7-4d47-8233-ee67562ec84a” | c(“biolink:Association”, “biolink:Entity”) |
quickplot <- function(g) {
ggraph(g, layout = "sugiyama") +
geom_edge_link(aes(color = predicate),
arrow = arrow(length = unit(2, 'mm'), type = "closed"),
end_cap = circle(2.5, 'mm')) +
geom_node_point(aes(color = pcategory),
size = 3) +
geom_node_label(aes(label = str_wrap(name, 20)),
size = 2,
repel = TRUE,
check_overlap = TRUE,
fill = "#FFFFFF88")
}
quickplot(alz)
Cool. Let’s summarize the neighborhood in this graph to see how many phenotypes etc. are connected.
alz |> summarize_neighborhood(summarize = "nodes")
## # A tibble: 4 × 2
## pcategory count
## <chr> <int>
## 1 biolink:PhenotypicFeature 85
## 2 biolink:Gene 17
## 3 biolink:ChemicalEntity 16
## 4 biolink:Disease 13
Now, let’s look for behavior-related entities.
monarch_engine() |>
search_nodes("behavior")
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) |
---|---|---|---|---|---|---|---|---|
“HP:0000708” | “biolink:PhenotypicFeature” | “Atypical behavior” | “Atypical behavior is an abnormality in a person’s actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual’s will.” | c(“Behavioral abnormality”, “Behavioral changes”, “Behavioral disorders”, “Behavioral disturbances”, “Behavioral problems”, “Behavioral symptoms”, “Behavioral/psychiatric abnormalities”, “Behavioural abnormality”, “Behavioural changes”, “Behavioural disorders”, “Behavioural disturbances”, “Behavioural problems”, “Behavioural symptoms”, “Behavioural/Psychiatric abnormality”, “Psychiatric disorders”, “Psychiatric disturbances”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000708” | c(“MSH:D000066553”, “MSH:D001526”, “SNOMEDCT_US:25786006”, “SNOMEDCT_US:277843001”, “UMLS:C0004941”, “UMLS:C0233514”) | “phenio_nodes” |
“HP:0000718” | “biolink:PhenotypicFeature” | “Aggressive behavior” | “Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone’s tires).” | c(“Aggression”, “Aggressive behavior”, “Aggressive behaviour”, “Aggressiveness”, “physical aggression”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000718” | c(“MSH:D000374”, “SNOMEDCT_US:248004009”, “SNOMEDCT_US:61372001”, “UMLS:C0001807”, “UMLS:C0424323”, “UMLS:C1457883”) | “phenio_nodes” |
“HP:0008760” | “biolink:PhenotypicFeature” | “Violent behavior” | “Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.” | c(“Violent behavior”, “Violent behaviour”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008760” | c(“SNOMEDCT_US:248004009”, “UMLS:C0424323”) | “phenio_nodes” |
“MP:0001408” | “biolink:PhenotypicFeature” | “stereotypic behavior” | “repetitive, invariant, perseverative motor patterns that do not appear to be purposeful” | “stereotypic behaviour” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0001408” | NA | “phenio_nodes” |
“MP:0004924” | “biolink:PhenotypicFeature” | “abnormal behavior” | “any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls” | c(“abnormal behaviour”, “abnormal general behavior”, “abnormal general behaviour”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0004924” | NA | “phenio_nodes” |
“GO:0007610” | “biolink:BiologicalEntity” | “behavior” | “The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity.” | c(“behavioral response to stimulus”, “behaviour”, “behavioural response to stimulus”, “single-organism behavior”) | c(“biolink:BiologicalEntity”, “biolink:BiologicalProcessOrActivity”, “biolink:Entity”, “biolink:NamedThing”, “biolink:Occurrent”, “biolink:OntologyClass”, “biolink:PhysicalEssenceOrOccurrent”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/GO_0007610” | “Wikipedia:Behavior” | “phenio_nodes” |
“MONDO:0800106” | “biolink:Disease” | “disruptive behavior disorder” | “A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.” | “disruptive disorder” | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0800106” | “NCIT:C99753” | “phenio_nodes” |
“WBPhenotype:0000517” | “biolink:PhenotypicFeature” | “behavior phenotype” | “Variations in the specific actions or reactions in response to external or internal stimuli compared to that observed in control animals.” | c(“behavior abnormal”, “behavior variant”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/WBPhenotype_0000517” | NA | “phenio_nodes” |
“XPO:0128000” | “biolink:PhenotypicFeature” | “absent behavior” | “Absence of behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/XPO_0128000” | NA | “phenio_nodes” |
“XPO:0116429” | “biolink:PhenotypicFeature” | “abnormal behavior” | “An anomaly in behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/XPO_0116429” | NA | “phenio_nodes” |
“Atypical behavior” sounds likely. We’ll get it’s descendents and ancestors.
atypical_behaviors_desc <- monarch_engine() |>
fetch_nodes(query_ids = "HP:0000708") |>
expand(predicates = "biolink:subclass_of", direction = "in", transitive = TRUE)
atypical_behaviors_desc
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) |
---|---|---|---|---|---|---|---|---|
“HP:0000708” | “biolink:PhenotypicFeature” | “Atypical behavior” | “Atypical behavior is an abnormality in a person’s actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual’s will.” | c(“Behavioral abnormality”, “Behavioral changes”, “Behavioral disorders”, “Behavioral disturbances”, “Behavioral problems”, “Behavioral symptoms”, “Behavioral/psychiatric abnormalities”, “Behavioural abnormality”, “Behavioural changes”, “Behavioural disorders”, “Behavioural disturbances”, “Behavioural problems”, “Behavioural symptoms”, “Behavioural/Psychiatric abnormality”, “Psychiatric disorders”, “Psychiatric disturbances”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000708” | c(“MSH:D000066553”, “MSH:D001526”, “SNOMEDCT_US:25786006”, “SNOMEDCT_US:277843001”, “UMLS:C0004941”, “UMLS:C0233514”) | “phenio_nodes” |
“HP:0000738” | “biolink:PhenotypicFeature” | “Hallucinations” | “Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.” | c(“Hallucination”, “Hallucinations”, “Sensory hallucination”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000738” | c(“MSH:D006212”, “SNOMEDCT_US:7011001”, “UMLS:C0018524”, “UMLS:C0235153”) | “phenio_nodes” |
“HP:0006896” | “biolink:PhenotypicFeature” | “Hypnopompic hallucinations” | “Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006896” | c(“MSH:D006212”, “SNOMEDCT_US:69690008”, “UMLS:C0424082”) | “phenio_nodes” |
“HP:0002519” | “biolink:PhenotypicFeature” | “Hypnagogic hallucinations” | “Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002519” | c(“MSH:D006212”, “SNOMEDCT_US:44780000”, “UMLS:C0233773”) | “phenio_nodes” |
“HP:0008765” | “biolink:PhenotypicFeature” | “Auditory hallucinations” | “The false perception of sound.” | c(“Hallucinations of sound”, “Hearing sounds”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008765” | c(“MSH:D006212”, “SNOMEDCT_US:45150006”, “UMLS:C0233762”) | “phenio_nodes” |
“HP:0006803” | “biolink:PhenotypicFeature” | “Vivid hallucinations” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006803” | “UMLS:C4024978” | “phenio_nodes” |
“HP:0033694” | “biolink:PhenotypicFeature” | “Tactile hallucination” | “The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.” | “Tactile hallucinations” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033694” | NA | “phenio_nodes” |
“HP:0002367” | “biolink:PhenotypicFeature” | “Visual hallucinations” | “Visual perceptions that are not elicited by a corresponding stimulus from the outside world.” | “Visual hallucinations” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002367” | c(“MSH:D006212”, “SNOMEDCT_US:64269007”, “UMLS:C0233763”) | “phenio_nodes” |
“HP:0000709” | “biolink:PhenotypicFeature” | “Psychosis” | “A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.” | “Psychosis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000709” | c(“MSH:D011618”, “SNOMEDCT_US:69322001”, “UMLS:C0033975”) | “phenio_nodes” |
“HP:0001345” | “biolink:PhenotypicFeature” | “Psychotic mentation” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001345” | “UMLS:C4025789” | “phenio_nodes” |
“HP:0000725” | “biolink:PhenotypicFeature” | “Psychotic episodes” | NA | “Psychotic episodes” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000725” | “UMLS:C0338614” | “phenio_nodes” |
“HP:0006932” | “biolink:PhenotypicFeature” | “Transient psychotic episodes” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006932” | “UMLS:C4024958” | “phenio_nodes” |
“HP:0100753” | “biolink:PhenotypicFeature” | “Schizophrenia” | “A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0100753” | c(“MSH:D012559”, “SNOMEDCT_US:191526005”, “SNOMEDCT_US:58214004”, “UMLS:C0036341”) | “phenio_nodes” |
“HP:0000496” | “biolink:PhenotypicFeature” | “Abnormality of eye movement” | “An abnormality in voluntary or involuntary eye movements or their control.” | c(“Abnormal extraocular movement”, “Abnormal extraocular movements”, “Abnormal eye motility”, “Abnormal eye movement”, “Abnormal eye movements”, “Abnormal motility of the globe of the eye”, “Abnormal movement of the globe of the eye”, “Abnormal ocular movements”, “Abnormality of eye movement”, “Eye movement abnormalities”, “Eye movement issue”, “Ocular movement abnormalities”, “Oculomotor abnormalities”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000496” | c(“SNOMEDCT_US:103252009”, “UMLS:C0497202”) | “phenio_nodes” |
“HP:0007941” | “biolink:PhenotypicFeature” | “Limited extraocular movements” | “Limited mobility of the eye within its socket.” | “Limited extraocular movement” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007941” | “UMLS:C1858427” | “phenio_nodes” |
“HP:0025721” | “biolink:PhenotypicFeature” | “Limited vertical extraocular movement” | “Limited mobility of the eye to move up and down (vertically) within its socket.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025721” | NA | “phenio_nodes” |
“HP:0025720” | “biolink:PhenotypicFeature” | “Limited horizontal extraocular movement” | “Limited mobility of the eye to move from side to side (horizontally) within its socket.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025720” | NA | “phenio_nodes” |
“HP:0000617” | “biolink:PhenotypicFeature” | “Abnormality of ocular smooth pursuit” | “An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.” | c(“Abnormal smooth pursuits”, “Disrupted ocular pursuit movements”, “Impaired smooth pursuit ocular movements”, “Irregular visual pursuit movements”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000617” | “UMLS:C1836393” | “phenio_nodes” |
“HP:0001152” | “biolink:PhenotypicFeature” | “Saccadic smooth pursuit” | “An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.” | c(“Saccadic pursuit movements”, “Saccadic slow pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001152” | “UMLS:C1836479” | “phenio_nodes” |
“HP:0007792” | “biolink:PhenotypicFeature” | “Microsaccadic pursuit” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007792” | “UMLS:C1843892” | “phenio_nodes” |
“HP:0007944” | “biolink:PhenotypicFeature” | “Intermittent microsaccadic pursuits” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007944” | “UMLS:C4024768” | “phenio_nodes” |
“HP:0007772” | “biolink:PhenotypicFeature” | “Impaired smooth pursuit” | “An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.” | c(“Abnormal visual pursuit”, “Abnormality of visual tracking”, “Impairment of visual pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007772” | c(“UMLS:C1837458”, “UMLS:C1848530”) | “phenio_nodes” |
“HP:0007179” | “biolink:PhenotypicFeature” | “Absent smooth pursuit” | “A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007179” | “UMLS:C4024928” | “phenio_nodes” |
“HP:0001151” | “biolink:PhenotypicFeature” | “Impaired horizontal smooth pursuit” | “An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.” | c(“Abnormal horizontal ocular pursuit”, “Impaired horizontal visual pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001151” | “UMLS:C1866753” | “phenio_nodes” |
“HP:0008003” | “biolink:PhenotypicFeature” | “Jerky ocular pursuit movements” | NA | “Jerky smooth pursuit” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008003” | “UMLS:C1853558” | “phenio_nodes” |
“HP:0007668” | “biolink:PhenotypicFeature” | “Impaired pursuit initiation and maintenance” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007668” | “UMLS:C1969722” | “phenio_nodes” |
“HP:0025404” | “biolink:PhenotypicFeature” | “Abnormal visual fixation” | “Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025404” | NA | “phenio_nodes” |
“HP:0025405” | “biolink:PhenotypicFeature” | “Visual fixation instability” | “A deficit in the ability to fixate eye movements in order to stabilize images on the retina” | “Instability of ocular fixation” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025405” | NA | “phenio_nodes” |
“HP:0025549” | “biolink:PhenotypicFeature” | “Eccentric visual fixation” | “A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.” | “Eccentric fixation” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025549” | NA | “phenio_nodes” |
“HP:0031769” | “biolink:PhenotypicFeature” | “Peripheral fixation” | “Fixation of an object in a peripheral area of the retina.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031769” | NA | “phenio_nodes” |
“HP:0031768” | “biolink:PhenotypicFeature” | “Parafoveal fixation” | “Fixation of an object in the area adjacent to the fovea.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031768” | NA | “phenio_nodes” |
“HP:0500072” | “biolink:PhenotypicFeature” | “Absolute eccentric fixation” | “Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500072” | NA | “phenio_nodes” |
“HP:0000549” | “biolink:PhenotypicFeature” | “Abnormal conjugate eye movement” | “Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.” | “Disconjugate eye movements” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000549” | “UMLS:C1845274” | “phenio_nodes” |
“HP:0000605” | “biolink:PhenotypicFeature” | “Supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | “Supranuclear gaze paralysis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000605” | c(“SNOMEDCT_US:420675003”, “UMLS:C1720037”) | “phenio_nodes” |
“HP:0007817” | “biolink:PhenotypicFeature” | “Horizontal supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007817” | “UMLS:C4024794” | “phenio_nodes” |
“HP:0000511” | “biolink:PhenotypicFeature” | “Vertical supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | “Vertical gaze palsy” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000511” | c(“SNOMEDCT_US:246773002”, “UMLS:C0339652”, “UMLS:C1843369”) | “phenio_nodes” |
“HP:0025331” | “biolink:PhenotypicFeature” | “Upgaze palsy” | “A limitation of the ability to direct one’s gaze above the horizontal meridian.” | c(“Supranuclear upgaze palsy”, “Upgaze paresis”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025331” | NA | “phenio_nodes” |
“HP:0025330” | “biolink:PhenotypicFeature” | “Downgaze palsy” | “A limitation of the ability to direct one’s gaze below the horizontal meridian.” | c(“Downgaze paresis”, “Supranuclear downgaze palsy”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025330” | NA | “phenio_nodes” |
“HP:0000486” | “biolink:PhenotypicFeature” | “Strabismus” | “A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.” | c(“Cross-eyed”, “Squint”, “Squint eyes”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000486” | c(“MSH:D013285”, “SNOMEDCT_US:128602000”, “SNOMEDCT_US:22066006”, “UMLS:C0038379”) | “phenio_nodes” |
“HP:0020049” | “biolink:PhenotypicFeature” | “Exodeviation” | “A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.” | “Divergent strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020049” | NA | “phenio_nodes” |
“HP:0000577” | “biolink:PhenotypicFeature” | “Exotropia” | “A form of strabismus with one or both eyes deviated outward.” | “Outward facing eye ball” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000577” | c(“MSH:D005099”, “SNOMEDCT_US:399054005”, “SNOMEDCT_US:399252000”, “UMLS:C0015310”) | “phenio_nodes” |
“HP:0031721” | “biolink:PhenotypicFeature” | “Sensory exotropia” | “A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.” | “Secondary exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031721” | NA | “phenio_nodes” |
“HP:0031714” | “biolink:PhenotypicFeature” | “Distance exotropia” | “A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031714” | NA | “phenio_nodes” |
“HP:0031720” | “biolink:PhenotypicFeature” | “Simulated distance exotropia” | “Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031720” | NA | “phenio_nodes” |
“HP:0031719” | “biolink:PhenotypicFeature” | “True distance exotropia” | “Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031719” | NA | “phenio_nodes” |
“HP:0031716” | “biolink:PhenotypicFeature” | “Cyclic exotropia” | “A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031716” | NA | “phenio_nodes” |
“HP:0031715” | “biolink:PhenotypicFeature” | “Near exotropia” | “An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031715” | NA | “phenio_nodes” |
“HP:0031718” | “biolink:PhenotypicFeature” | “Consecutive exotropia” | “Exotropia in an individual who has previously had esotropia or esophoria.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031718” | NA | “phenio_nodes” |
“HP:0031713” | “biolink:PhenotypicFeature” | “Constant exotropia” | “A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031713” | NA | “phenio_nodes” |
“HP:0032009” | “biolink:PhenotypicFeature” | “Infantile constant exotropia” | “Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.” | “Infantile (constant) exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032009” | NA | “phenio_nodes” |
“HP:0032010” | “biolink:PhenotypicFeature” | “Basic constant exotropia” | “Constant exotropia for near and distance, presenting after 6 months of age.” | “Basic (constant) exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032010” | NA | “phenio_nodes” |
“HP:0031717” | “biolink:PhenotypicFeature” | “Alternating exotropia” | “A type of exotropia in which either eye may be used for fixation.” | “Alternating strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031717” | NA | “phenio_nodes” |
“HP:0025313” | “biolink:PhenotypicFeature” | “Exophoria” | “A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025313” | NA | “phenio_nodes” |
“HP:0010877” | “biolink:PhenotypicFeature” | “Monocular strabismus” | “A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes ‘squints’ at different times.” | “Unilateral strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010877” | “UMLS:C4023678” | “phenio_nodes” |
“HP:0032012” | “biolink:PhenotypicFeature” | “Heterotropia” | “Manifest deviation of the visual axes not controlled by fusion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032012” | NA | “phenio_nodes” |
“HP:0000565” | “biolink:PhenotypicFeature” | “Esotropia” | “A form of strabismus with one or both eyes turned inward (‘crossed’) to a relatively severe degree, usually defined as 10 diopters or more.” | “Inward turning cross eyed” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000565” | c(“MSH:D004948”, “SNOMEDCT_US:16596007”, “UMLS:C0014877”) | “phenio_nodes” |
“HP:0020046” | “biolink:PhenotypicFeature” | “Accommodative esotropia” | “A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020046” | NA | “phenio_nodes” |
“HP:0031766” | “biolink:PhenotypicFeature” | “Convergence excess esotropia” | “An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031766” | NA | “phenio_nodes” |
“HP:0031765” | “biolink:PhenotypicFeature” | “Partially accomodative esotropia” | “A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.” | c(“Constant esotropia with an accommodative component”, “Constant esotropia with an accommodative element”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031765” | NA | “phenio_nodes” |
“HP:0031764” | “biolink:PhenotypicFeature” | “Fully accomodative esotropia” | “Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031764” | NA | “phenio_nodes” |
“HP:0031723” | “biolink:PhenotypicFeature” | “Secondary esotropia” | “Convergent squint which follows loss or impairment of vision.” | “Sensory esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031723” | NA | “phenio_nodes” |
“HP:0031767” | “biolink:PhenotypicFeature” | “Consecutive esotropia” | “Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031767” | NA | “phenio_nodes” |
“HP:0031760” | “biolink:PhenotypicFeature” | “Non-accomodative esotropia” | “A form of esotropia in which the angle of deviation is not affected by accommodative effort.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031760” | NA | “phenio_nodes” |
“HP:0031759” | “biolink:PhenotypicFeature” | “Basic constant esotropia” | “A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).” | “Basic (constant) esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031759” | NA | “phenio_nodes” |
“HP:0031762” | “biolink:PhenotypicFeature” | “Distance esotropia” | “An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.” | “Divergence insufficiency” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031762” | NA | “phenio_nodes” |
“HP:0031722” | “biolink:PhenotypicFeature” | “Near esotropia” | “An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.” | “Non-accomodative convergence excess esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031722” | NA | “phenio_nodes” |
“HP:0031763” | “biolink:PhenotypicFeature” | “Cyclic esotropia” | “Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031763” | NA | “phenio_nodes” |
“HP:0031761” | “biolink:PhenotypicFeature” | “Infantile constant esotropia” | “Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.” | “Infantile (constant) esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031761” | NA | “phenio_nodes” |
“HP:0001137” | “biolink:PhenotypicFeature” | “Alternating esotropia” | “Esotropia in which either eye may be used for fixation.” | “Alternating cross eyes” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001137” | c(“SNOMEDCT_US:39837002”, “UMLS:C0152205”) | “phenio_nodes” |
“HP:0025584” | “biolink:PhenotypicFeature” | “Hypotropia” | “A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025584” | NA | “phenio_nodes” |
“HP:0500078” | “biolink:PhenotypicFeature” | “Alternating hypotropia” | “A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500078” | NA | “phenio_nodes” |
“HP:0025586” | “biolink:PhenotypicFeature” | “Hypertropia” | “A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025586” | NA | “phenio_nodes” |
“HP:0500076” | “biolink:PhenotypicFeature” | “Alternating hypertropia” | “A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500076” | NA | “phenio_nodes” |
“HP:0031776” | “biolink:PhenotypicFeature” | “Cyclotropia” | “A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031776” | NA | “phenio_nodes” |
“HP:0031727” | “biolink:PhenotypicFeature” | “Excyclotropia” | “A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031727” | NA | “phenio_nodes” |
“HP:0031726” | “biolink:PhenotypicFeature” | “Incyclotropia” | “A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031726” | NA | “phenio_nodes” |
“HP:0031724” | “biolink:PhenotypicFeature” | “Microtropia” | “A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031724” | NA | “phenio_nodes” |
“HP:0031781” | “biolink:PhenotypicFeature” | “Microtropia with identity” | “A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031781” | NA | “phenio_nodes” |
“HP:0031782” | “biolink:PhenotypicFeature” | “Microtropia without identity” | “A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031782” | NA | “phenio_nodes” |
“HP:0025068” | “biolink:PhenotypicFeature” | “Incomitant strabismus” | “Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025068” | NA | “phenio_nodes” |
“HP:0009921” | “biolink:PhenotypicFeature” | “Duane anomaly” | “A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction” | c(“Globe retraction and deviation on adduction”, “Limited eye motility from Duane anomaly”, “Limited eye movement from Duane anomaly”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0009921” | c(“MSH:D004370”, “SNOMEDCT_US:60318001”, “UMLS:C0013261”, “UMLS:C1846464”, “UMLS:C4072873”) | “phenio_nodes” |
“HP:0020043” | “biolink:PhenotypicFeature” | “Vertical incomitant strabismus” | “A type of incomitant strabismus in which the angle of deviation varies as the patient’s gaze shifts upwards and/or downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020043” | NA | “phenio_nodes” |
“HP:0020042” | “biolink:PhenotypicFeature” | “Double depressor palsy” | “An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020042” | NA | “phenio_nodes” |
“HP:0031622” | “biolink:PhenotypicFeature” | “Brown anomaly” | “An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.” | “Brown syndrome” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031622” | NA | “phenio_nodes” |
“HP:0020041” | “biolink:PhenotypicFeature” | “Double elevator palsy” | “A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020041” | NA | “phenio_nodes” |
“HP:0020044” | “biolink:PhenotypicFeature” | “Horizontal incomitant strabismus” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020044” | NA | “phenio_nodes” |
“HP:0025589” | “biolink:PhenotypicFeature” | “Cyclodeviation” | “Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025589” | NA | “phenio_nodes” |
“HP:0031777” | “biolink:PhenotypicFeature” | “Cyclophoria” | “A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031777” | NA | “phenio_nodes” |
“HP:0031778” | “biolink:PhenotypicFeature” | “Incyclophoria” | “A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031778” | NA | “phenio_nodes” |
“HP:0031779” | “biolink:PhenotypicFeature” | “Excyclophoria” | “A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031779” | NA | “phenio_nodes” |
“HP:0025069” | “biolink:PhenotypicFeature” | “Concomitant strabismus” | “Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.” | “Comitant strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025069” | NA | “phenio_nodes” |
“HP:0025587” | “biolink:PhenotypicFeature” | “Hyperdeviation” | “A type of strabismus in which the visual axis of one eye is higher than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025587” | NA | “phenio_nodes” |
“HP:0025585” | “biolink:PhenotypicFeature” | “Hyperphoria” | “Tendency for the visual axis of one eye to be higher than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025585” | NA | “phenio_nodes” |
“HP:0500077” | “biolink:PhenotypicFeature” | “Alternating hyperphoria” | “A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500077” | NA | “phenio_nodes” |
“HP:0025588” | “biolink:PhenotypicFeature” | “Hypodeviation” | “A type of strabismus in which the visual axis of one eye is lower than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025588” | NA | “phenio_nodes” |
“HP:0031725” | “biolink:PhenotypicFeature” | “Hypophoria” | “A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031725” | NA | “phenio_nodes” |
“HP:0500079” | “biolink:PhenotypicFeature” | “Alternating hypophoria” | “A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500079” | NA | “phenio_nodes” |
“HP:0032011” | “biolink:PhenotypicFeature” | “Heterophoria” | “Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032011” | NA | “phenio_nodes” |
“HP:0025312” | “biolink:PhenotypicFeature” | “Esophoria” | “A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025312” | NA | “phenio_nodes” |
“HP:0031775” | “biolink:PhenotypicFeature” | “Neurogenic strabismus” | “An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.” | “Paralytic strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031775” | NA | “phenio_nodes” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “HP:0000738” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ec28353d-fee3-498f-b3db-3614e7d58cd7” | c(“biolink:Association”, “biolink:Entity”) |
3 | 2 | “HP:0006896” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:821bb47c-90a4-4bbd-9878-aee67f7bbce4” | c(“biolink:Association”, “biolink:Entity”) |
4 | 2 | “HP:0002519” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5dc954a4-6886-48a2-8227-6f1c828a8261” | c(“biolink:Association”, “biolink:Entity”) |
5 | 2 | “HP:0008765” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3da0826d-83e8-41ce-9d4a-31eb5ca56632” | c(“biolink:Association”, “biolink:Entity”) |
6 | 2 | “HP:0006803” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:588d17f2-cd18-41a1-87c2-f79d055df410” | c(“biolink:Association”, “biolink:Entity”) |
7 | 2 | “HP:0033694” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f2cd451e-ec74-4d09-8fab-47c33034ac8f” | c(“biolink:Association”, “biolink:Entity”) |
8 | 2 | “HP:0002367” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9927fb91-15f8-4051-a739-9d3f442c918b” | c(“biolink:Association”, “biolink:Entity”) |
9 | 1 | “HP:0000709” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c2e030e7-3e24-480a-a8bc-3b0c766e9d79” | c(“biolink:Association”, “biolink:Entity”) |
10 | 9 | “HP:0001345” | “biolink:subclass_of” | “HP:0000709” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fc9433ff-4833-47bc-a813-2eb7464a31f5” | c(“biolink:Association”, “biolink:Entity”) |
11 | 9 | “HP:0000725” | “biolink:subclass_of” | “HP:0000709” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:05d8f41f-e303-4a85-a9e4-22f0b359ec7e” | c(“biolink:Association”, “biolink:Entity”) |
12 | 11 | “HP:0006932” | “biolink:subclass_of” | “HP:0000725” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e4409dc1-a71e-4af9-aa54-1b993d4ea78c” | c(“biolink:Association”, “biolink:Entity”) |
13 | 1 | “HP:0100753” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8d6edf5a-14d2-4c59-90e5-5310397b3143” | c(“biolink:Association”, “biolink:Entity”) |
14 | 1 | “HP:0000496” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f95deeb4-467a-4ce2-9325-7955ecac464a” | c(“biolink:Association”, “biolink:Entity”) |
15 | 14 | “HP:0007941” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2cd098e2-f699-4703-8b30-1fe287294537” | c(“biolink:Association”, “biolink:Entity”) |
16 | 15 | “HP:0025721” | “biolink:subclass_of” | “HP:0007941” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ffa1d62f-d95f-47e4-b9eb-450ba647c478” | c(“biolink:Association”, “biolink:Entity”) |
17 | 15 | “HP:0025720” | “biolink:subclass_of” | “HP:0007941” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:bd90bad2-ac98-4c7e-9417-72e87c9ca8ba” | c(“biolink:Association”, “biolink:Entity”) |
18 | 14 | “HP:0000617” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:851ac639-e465-462c-9acb-ca68322c8a68” | c(“biolink:Association”, “biolink:Entity”) |
19 | 18 | “HP:0001152” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1cc3a68d-5ab4-44e5-a4e4-c8055f467ebc” | c(“biolink:Association”, “biolink:Entity”) |
20 | 19 | “HP:0007792” | “biolink:subclass_of” | “HP:0001152” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e30203b9-b819-4d60-be20-04acc6038168” | c(“biolink:Association”, “biolink:Entity”) |
21 | 19 | “HP:0007944” | “biolink:subclass_of” | “HP:0001152” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:752b4bea-5b0c-45ee-b08c-92e6ba6a3403” | c(“biolink:Association”, “biolink:Entity”) |
22 | 18 | “HP:0007772” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ed4f655b-976a-489e-b75c-cb87f929fdc1” | c(“biolink:Association”, “biolink:Entity”) |
23 | 22 | “HP:0007179” | “biolink:subclass_of” | “HP:0007772” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0ad79ae9-b3db-472e-b73b-be8445838be2” | c(“biolink:Association”, “biolink:Entity”) |
24 | 22 | “HP:0001151” | “biolink:subclass_of” | “HP:0007772” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9f22fa8b-1510-4a97-b6c3-f1d06a14d457” | c(“biolink:Association”, “biolink:Entity”) |
25 | 18 | “HP:0008003” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:953d9f9e-2ee7-49c6-972b-fc9df206a0fe” | c(“biolink:Association”, “biolink:Entity”) |
26 | 18 | “HP:0007668” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4551df30-a9b7-42a4-b81d-f3bad0ec16b3” | c(“biolink:Association”, “biolink:Entity”) |
27 | 14 | “HP:0025404” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:14452f2d-f881-4b3a-98c1-1fd8907b0949” | c(“biolink:Association”, “biolink:Entity”) |
28 | 27 | “HP:0025405” | “biolink:subclass_of” | “HP:0025404” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8c988f49-5bf4-47e2-b920-03ab7807a675” | c(“biolink:Association”, “biolink:Entity”) |
29 | 27 | “HP:0025549” | “biolink:subclass_of” | “HP:0025404” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:36faac0b-ede4-4271-906c-1c8561e1bddb” | c(“biolink:Association”, “biolink:Entity”) |
30 | 29 | “HP:0031769” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:39b695e1-ca3c-4a36-a8d2-6bed3f2b1459” | c(“biolink:Association”, “biolink:Entity”) |
31 | 29 | “HP:0031768” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f879f962-a6f2-40b1-ad84-381e4070c545” | c(“biolink:Association”, “biolink:Entity”) |
32 | 29 | “HP:0500072” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f3548dc0-cb74-4127-b84c-b9b9400e8896” | c(“biolink:Association”, “biolink:Entity”) |
33 | 14 | “HP:0000549” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3194d14f-382f-4014-906e-7b5aa34354e5” | c(“biolink:Association”, “biolink:Entity”) |
34 | 33 | “HP:0000605” | “biolink:subclass_of” | “HP:0000549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:78685fdd-b61b-47ad-a36b-2ceb0b86ee3d” | c(“biolink:Association”, “biolink:Entity”) |
35 | 34 | “HP:0007817” | “biolink:subclass_of” | “HP:0000605” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f0601b99-fc36-4068-82c8-64a7bef44097” | c(“biolink:Association”, “biolink:Entity”) |
36 | 34 | “HP:0000511” | “biolink:subclass_of” | “HP:0000605” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:11cee6e3-3f48-4ccc-b235-a45951f5251a” | c(“biolink:Association”, “biolink:Entity”) |
37 | 36 | “HP:0025331” | “biolink:subclass_of” | “HP:0000511” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e00fba8b-5443-4541-b2a3-9aac7aae8e75” | c(“biolink:Association”, “biolink:Entity”) |
38 | 36 | “HP:0025330” | “biolink:subclass_of” | “HP:0000511” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5612b2a8-ab08-4572-ab0b-ed34c83c2d43” | c(“biolink:Association”, “biolink:Entity”) |
39 | 33 | “HP:0000486” | “biolink:subclass_of” | “HP:0000549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:610a4507-877e-4b0e-b38f-b8f75f7a4e08” | c(“biolink:Association”, “biolink:Entity”) |
40 | 39 | “HP:0020049” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:03e31b35-03c1-4afa-97b3-b6a0095ed793” | c(“biolink:Association”, “biolink:Entity”) |
41 | 40 | “HP:0000577” | “biolink:subclass_of” | “HP:0020049” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:287503ec-c569-461a-8e8c-807b92453b47” | c(“biolink:Association”, “biolink:Entity”) |
42 | 41 | “HP:0031721” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fe944341-b4d2-41ad-8e3a-60bd5f2701e4” | c(“biolink:Association”, “biolink:Entity”) |
43 | 41 | “HP:0031714” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:93c36f63-ae1c-4be9-a228-f7d9d679b464” | c(“biolink:Association”, “biolink:Entity”) |
44 | 43 | “HP:0031720” | “biolink:subclass_of” | “HP:0031714” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6f202337-a386-4e8c-b53c-369cd09062e8” | c(“biolink:Association”, “biolink:Entity”) |
45 | 43 | “HP:0031719” | “biolink:subclass_of” | “HP:0031714” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:46eace7b-e6d4-4ba8-9fdc-7898b94c56de” | c(“biolink:Association”, “biolink:Entity”) |
46 | 41 | “HP:0031716” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6c1410b0-79a0-4c65-89c5-b0ff6a77e405” | c(“biolink:Association”, “biolink:Entity”) |
47 | 41 | “HP:0031715” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9b166755-abd3-4cc8-bbff-e3452e3afb70” | c(“biolink:Association”, “biolink:Entity”) |
48 | 41 | “HP:0031718” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5535f708-8a9d-4ec1-8972-7d9afe839d94” | c(“biolink:Association”, “biolink:Entity”) |
49 | 41 | “HP:0031713” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:08dd64a1-8ad6-4127-a23a-ed8e7af52cba” | c(“biolink:Association”, “biolink:Entity”) |
50 | 49 | “HP:0032009” | “biolink:subclass_of” | “HP:0031713” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a3e7dfe-8d5f-4bd8-a314-01fe64ec0b92” | c(“biolink:Association”, “biolink:Entity”) |
51 | 49 | “HP:0032010” | “biolink:subclass_of” | “HP:0031713” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0d3c2feb-e491-4177-a8c4-1f378e99ca2e” | c(“biolink:Association”, “biolink:Entity”) |
52 | 41 | “HP:0031717” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e5dcffa0-6ef9-40d5-91cd-10e6ad2b11e8” | c(“biolink:Association”, “biolink:Entity”) |
53 | 40 | “HP:0025313” | “biolink:subclass_of” | “HP:0020049” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:932954fe-7a68-4e8e-be55-eb2f5ff07b32” | c(“biolink:Association”, “biolink:Entity”) |
54 | 39 | “HP:0010877” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:88934cc6-55d0-4eb1-87fa-24ae5311d299” | c(“biolink:Association”, “biolink:Entity”) |
55 | 39 | “HP:0032012” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:76aa9b81-fdfc-43ea-9e35-32091132822a” | c(“biolink:Association”, “biolink:Entity”) |
56 | 55 | “HP:0000565” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9e89a668-97d0-4eba-aad7-ad83608d60c5” | c(“biolink:Association”, “biolink:Entity”) |
57 | 56 | “HP:0020046” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fbe6a8fb-786a-4e33-88db-7521f57b57b8” | c(“biolink:Association”, “biolink:Entity”) |
58 | 57 | “HP:0031766” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:bb518c83-32be-4f6c-998b-131c7b657665” | c(“biolink:Association”, “biolink:Entity”) |
59 | 57 | “HP:0031765” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:062350da-0a52-4f2a-89e6-7292a1f3b83b” | c(“biolink:Association”, “biolink:Entity”) |
60 | 57 | “HP:0031764” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5a2fa63b-c571-4de8-a74d-456772d1eec5” | c(“biolink:Association”, “biolink:Entity”) |
61 | 56 | “HP:0031723” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1a75b0aa-91ac-4dbf-ad8f-ddb903f84d7a” | c(“biolink:Association”, “biolink:Entity”) |
62 | 56 | “HP:0031767” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:a2067d1c-dc49-4896-b3bd-3579e3cccd41” | c(“biolink:Association”, “biolink:Entity”) |
63 | 56 | “HP:0031760” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3f9bd91e-3f00-4e64-adc0-ba35155b7865” | c(“biolink:Association”, “biolink:Entity”) |
64 | 63 | “HP:0031759” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:23936215-ef01-4332-a8ba-f75afb8ce51d” | c(“biolink:Association”, “biolink:Entity”) |
65 | 63 | “HP:0031762” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9010ba67-99c6-42e7-885a-b242c3e23f82” | c(“biolink:Association”, “biolink:Entity”) |
66 | 63 | “HP:0031722” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b4f3cbec-2379-4ecb-9f72-d6cef89927ec” | c(“biolink:Association”, “biolink:Entity”) |
67 | 63 | “HP:0031763” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4fe60939-52dc-49ab-a26d-43d9442fd64a” | c(“biolink:Association”, “biolink:Entity”) |
68 | 63 | “HP:0031761” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:25852a5e-8a75-4905-865f-e18891d4fd15” | c(“biolink:Association”, “biolink:Entity”) |
69 | 56 | “HP:0001137” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:04e862c9-71df-4013-aa97-cbd053e9f72c” | c(“biolink:Association”, “biolink:Entity”) |
70 | 55 | “HP:0025584” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a7f8cb3-380b-4369-918f-3cf27c76dda9” | c(“biolink:Association”, “biolink:Entity”) |
71 | 70 | “HP:0500078” | “biolink:subclass_of” | “HP:0025584” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2e760a28-74d3-44d7-9f04-e5a0f9e63da5” | c(“biolink:Association”, “biolink:Entity”) |
41 | 55 | “HP:0000577” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:de8739a7-b664-409c-92b8-ae0a0472b0b1” | c(“biolink:Association”, “biolink:Entity”) |
72 | 55 | “HP:0025586” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a4f7bdc-0438-4bbb-a249-7ae0ea899de5” | c(“biolink:Association”, “biolink:Entity”) |
73 | 72 | “HP:0500076” | “biolink:subclass_of” | “HP:0025586” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0c9ac145-8946-4670-bcb1-35aeda7162ba” | c(“biolink:Association”, “biolink:Entity”) |
74 | 55 | “HP:0031776” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4d6c843d-e65f-4cf0-80b1-8620751e86ae” | c(“biolink:Association”, “biolink:Entity”) |
75 | 74 | “HP:0031727” | “biolink:subclass_of” | “HP:0031776” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:af7d7bf9-2892-4e32-9507-e6b677913dc0” | c(“biolink:Association”, “biolink:Entity”) |
76 | 74 | “HP:0031726” | “biolink:subclass_of” | “HP:0031776” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1dd5d90b-9328-4ef7-9be8-2a45c287e71d” | c(“biolink:Association”, “biolink:Entity”) |
77 | 55 | “HP:0031724” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:dec16090-61c1-46cd-8479-2faf5eeb4345” | c(“biolink:Association”, “biolink:Entity”) |
78 | 77 | “HP:0031781” | “biolink:subclass_of” | “HP:0031724” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0ef71ded-0969-4d32-a1d5-06332503c694” | c(“biolink:Association”, “biolink:Entity”) |
79 | 77 | “HP:0031782” | “biolink:subclass_of” | “HP:0031724” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6ec67ed3-9a73-4c08-9de7-831c3f899d37” | c(“biolink:Association”, “biolink:Entity”) |
80 | 39 | “HP:0025068” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:51248dcd-7a49-4c17-83a1-21159fdd2801” | c(“biolink:Association”, “biolink:Entity”) |
81 | 80 | “HP:0009921” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b958c12e-05f6-4854-b8ec-c9225371586f” | c(“biolink:Association”, “biolink:Entity”) |
82 | 80 | “HP:0020043” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7798edaf-74d4-414a-b6cd-6e374a5e3a0d” | c(“biolink:Association”, “biolink:Entity”) |
83 | 80 | “HP:0020042” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d724901b-b721-41c3-9ec8-fcd522d39ef4” | c(“biolink:Association”, “biolink:Entity”) |
84 | 80 | “HP:0031622” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4862176f-6e76-48c2-ae3d-2f9109585bd4” | c(“biolink:Association”, “biolink:Entity”) |
85 | 80 | “HP:0020041” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:18beb838-4df9-4124-ac6c-8eaa99b42910” | c(“biolink:Association”, “biolink:Entity”) |
86 | 80 | “HP:0020044” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:74220b3c-e169-414d-b44c-0171c9e2baa7” | c(“biolink:Association”, “biolink:Entity”) |
87 | 39 | “HP:0025589” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:777691f8-55a3-4d9c-86fe-15a5dbe4486c” | c(“biolink:Association”, “biolink:Entity”) |
74 | 87 | “HP:0031776” | “biolink:subclass_of” | “HP:0025589” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3602cc93-62ff-468d-aebb-7197d838c0b9” | c(“biolink:Association”, “biolink:Entity”) |
88 | 87 | “HP:0031777” | “biolink:subclass_of” | “HP:0025589” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:63fed025-9805-4f7e-ba86-580a7fad4699” | c(“biolink:Association”, “biolink:Entity”) |
89 | 88 | “HP:0031778” | “biolink:subclass_of” | “HP:0031777” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:23eec70b-c374-4bef-b5af-da68bcc5a863” | c(“biolink:Association”, “biolink:Entity”) |
90 | 88 | “HP:0031779” | “biolink:subclass_of” | “HP:0031777” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fa82529a-7fce-450d-8791-4951a0698b3c” | c(“biolink:Association”, “biolink:Entity”) |
91 | 39 | “HP:0025069” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2e90323f-1faa-4ad9-948d-c5bbc7afaee9” | c(“biolink:Association”, “biolink:Entity”) |
92 | 39 | “HP:0025587” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fbb4c4f5-37b5-4256-a698-4ae70a99237c” | c(“biolink:Association”, “biolink:Entity”) |
72 | 92 | “HP:0025586” | “biolink:subclass_of” | “HP:0025587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:64d3e81d-b7cf-4d9c-aa85-1c61a574d0f3” | c(“biolink:Association”, “biolink:Entity”) |
93 | 92 | “HP:0025585” | “biolink:subclass_of” | “HP:0025587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7214fca8-86cc-4eef-a49b-62a8f74c0f0e” | c(“biolink:Association”, “biolink:Entity”) |
94 | 93 | “HP:0500077” | “biolink:subclass_of” | “HP:0025585” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:10edc0cd-35bc-43e7-8509-8a0e595e657f” | c(“biolink:Association”, “biolink:Entity”) |
95 | 39 | “HP:0025588” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6626ea27-25ec-4c73-9b05-b32b1e70b5fa” | c(“biolink:Association”, “biolink:Entity”) |
70 | 95 | “HP:0025584” | “biolink:subclass_of” | “HP:0025588” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c6dfd504-a181-42e6-8e6e-0c4a755e6f8e” | c(“biolink:Association”, “biolink:Entity”) |
96 | 95 | “HP:0031725” | “biolink:subclass_of” | “HP:0025588” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5a88729e-5ffb-44ff-8f72-36f039108400” | c(“biolink:Association”, “biolink:Entity”) |
97 | 96 | “HP:0500079” | “biolink:subclass_of” | “HP:0031725” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:621e280e-23fa-4ed4-afeb-744c1b4143f2” | c(“biolink:Association”, “biolink:Entity”) |
atypical_behaviors_anc <- monarch_engine() |>
fetch_nodes(query_ids = "HP:0000708") |>
expand(predicates = "biolink:subclass_of", direction = "out", transitive = TRUE)
atypical_behaviors_anc
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) |
---|---|---|---|---|---|---|---|---|
“HP:0000708” | “biolink:PhenotypicFeature” | “Atypical behavior” | “Atypical behavior is an abnormality in a person’s actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual’s will.” | c(“Behavioral abnormality”, “Behavioral changes”, “Behavioral disorders”, “Behavioral disturbances”, “Behavioral problems”, “Behavioral symptoms”, “Behavioral/psychiatric abnormalities”, “Behavioural abnormality”, “Behavioural changes”, “Behavioural disorders”, “Behavioural disturbances”, “Behavioural problems”, “Behavioural symptoms”, “Behavioural/Psychiatric abnormality”, “Psychiatric disorders”, “Psychiatric disturbances”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000708” | c(“MSH:D000066553”, “MSH:D001526”, “SNOMEDCT_US:25786006”, “SNOMEDCT_US:277843001”, “UMLS:C0004941”, “UMLS:C0233514”) | “phenio_nodes” |
“UPHENO:0079826” | “biolink:PhenotypicFeature” | “abnormal behavior process” | “An anomaly in behavior process.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079826” | NA | “phenio_nodes” |
“UPHENO:0049622” | “biolink:PhenotypicFeature” | “abnormal behavior” | “Abnormal behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0049622” | NA | “phenio_nodes” |
“UPHENO:0049586” | “biolink:PhenotypicFeature” | “abnormal response to stimulus” | “Abnormal response to stimulus.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0049586” | NA | “phenio_nodes” |
“UPHENO:0049587” | “biolink:PhenotypicFeature” | “abnormal biological_process” | “Abnormal biological_process.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0049587” | NA | “phenio_nodes” |
“UPHENO:0001002” | “biolink:PhenotypicFeature” | “Phenotypic abnormality” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0001002” | NA | “phenio_nodes” |
“UPHENO:0001001” | “biolink:PhenotypicFeature” | “phenotype” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0001001” | NA | “phenio_nodes” |
“PATO:0000001” | “biolink:Entity” | “quality” | “A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities” | NA | c(“biolink:Entity”, “biolink:NamedThing”) | “http://purl.obolibrary.org/obo/PATO_0000001” | NA | “phenio_nodes” |
“BFO:0000020” | “biolink:Entity” | “specifically dependent continuant” | “b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])” | NA | c(“biolink:Entity”, “biolink:NamedThing”) | “http://purl.obolibrary.org/obo/BFO_0000020” | NA | “phenio_nodes” |
“BFO:0000002” | “biolink:Entity” | “continuant” | “An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.” | NA | c(“biolink:Entity”, “biolink:NamedThing”) | “http://purl.obolibrary.org/obo/BFO_0000002” | NA | “phenio_nodes” |
“BFO:0000001” | “biolink:Entity” | “entity” | NA | NA | c(“biolink:Entity”, “biolink:NamedThing”) | “http://purl.obolibrary.org/obo/BFO_0000001” | NA | “phenio_nodes” |
“owl:Thing” | “biolink:Entity” | NA | NA | NA | c(“biolink:Entity”, “biolink:NamedThing”) | NA | NA | “phenio_nodes” |
“HP:0011446” | “biolink:PhenotypicFeature” | “Abnormality of mental function” | “Cognitive, psychiatric, or memory anomaly.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011446” | “UMLS:C4023352” | “phenio_nodes” |
“HP:0012638” | “biolink:PhenotypicFeature” | “Abnormal nervous system physiology” | “A functional anomaly of the nervous system.” | “Abnormality of nervous system physiology” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0012638” | “UMLS:C4022811” | “phenio_nodes” |
“UPHENO:0002433” | “biolink:PhenotypicFeature” | “abnormality of nervous system physiology” | “Any functional anomaly of the nervous system.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0002433” | NA | “phenio_nodes” |
“UPHENO:0002332” | “biolink:PhenotypicFeature” | “abnormality of anatomical entity physiology” | “Any functional anomaly of the anatomical entity.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0002332” | NA | “phenio_nodes” |
“UPHENO:0075696” | “biolink:PhenotypicFeature” | “abnormal anatomical entity” | “Abnormality of anatomical entity.” | “abnormality of anatomical entity” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0075696” | NA | “phenio_nodes” |
“UPHENO:0002536” | “biolink:PhenotypicFeature” | “abnormal anatomical entity” | “Abnormality of anatomical entity.” | “abnormality of anatomical entity” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0002536” | NA | “phenio_nodes” |
“UPHENO:0082875” | “biolink:PhenotypicFeature” | “abnormality of anatomical entity physiology” | “Any functional anomaly of the anatomical entity.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082875” | NA | “phenio_nodes” |
“UPHENO:0004523” | “biolink:PhenotypicFeature” | “abnormal nervous system” | “Abnormality of nervous system.” | “abnormality of nervous system” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0004523” | NA | “phenio_nodes” |
“HP:0000707” | “biolink:PhenotypicFeature” | “Abnormality of the nervous system” | “An abnormality of the nervous system.” | c(“Abnormality of the nervous system”, “Brain and/or spinal cord issue”, “Neurologic abnormalities”, “Neurological abnormality”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000707” | c(“MSH:D009421”, “SNOMEDCT_US:88425004”, “UMLS:C0497552”) | “phenio_nodes” |
“HP:0000118” | “biolink:PhenotypicFeature” | “Phenotypic abnormality” | “A phenotypic abnormality.” | “Organ abnormality” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000118” | “UMLS:C4021819” | “phenio_nodes” |
“UPHENO:0001005” | “biolink:PhenotypicFeature” | “abnormal phenotype by ontology source” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0001005” | NA | “phenio_nodes” |
“UPHENO:0001003” | “biolink:PhenotypicFeature” | “phenotype by ontology source” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0001003” | NA | “phenio_nodes” |
“HP:0000001” | “biolink:PhenotypicFeature” | “All” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000001” | “UMLS:C0444868” | “phenio_nodes” |
“UPHENO:0080585” | “biolink:PhenotypicFeature” | “abnormal behavior process” | “Abnormal behavior process.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080585” | NA | “phenio_nodes” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 2 | “HP:0000708” | “biolink:subclass_of” | “UPHENO:0079826” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:ea0fe099-2093-431e-bb2e-f3efcb88c699” | c(“biolink:Association”, “biolink:Entity”) |
2 | 3 | “UPHENO:0079826” | “biolink:subclass_of” | “UPHENO:0049622” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:686554b0-e9bb-4bdf-8db9-829f11f07800” | c(“biolink:Association”, “biolink:Entity”) |
3 | 4 | “UPHENO:0049622” | “biolink:subclass_of” | “UPHENO:0049586” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:669604b6-cc6f-45ed-a48f-9fdf037e287d” | c(“biolink:Association”, “biolink:Entity”) |
4 | 5 | “UPHENO:0049586” | “biolink:subclass_of” | “UPHENO:0049587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:2694926f-3445-4f9c-badd-49ee74035e0f” | c(“biolink:Association”, “biolink:Entity”) |
5 | 6 | “UPHENO:0049587” | “biolink:subclass_of” | “UPHENO:0001002” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:b4f63efc-5a0f-42dd-bbb6-8fbe6939b54a” | c(“biolink:Association”, “biolink:Entity”) |
6 | 7 | “UPHENO:0001002” | “biolink:subclass_of” | “UPHENO:0001001” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:63d66254-41e4-4e73-ac1b-5bb4fcc48758” | c(“biolink:Association”, “biolink:Entity”) |
7 | 8 | “UPHENO:0001001” | “biolink:subclass_of” | “PATO:0000001” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:7c8d5bc5-fbf3-4429-8f3a-aa748f4f0f51” | c(“biolink:Association”, “biolink:Entity”) |
8 | 9 | “PATO:0000001” | “biolink:subclass_of” | “BFO:0000020” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:pato” | “phenio_edges” | “urn:uuid:f40e9885-475a-4b26-8606-d591f756452b” | c(“biolink:Association”, “biolink:Entity”) |
9 | 10 | “BFO:0000020” | “biolink:subclass_of” | “BFO:0000002” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:bfo” | “phenio_edges” | “urn:uuid:120e3bab-5648-4a22-a13b-7d19cd53971e” | c(“biolink:Association”, “biolink:Entity”) |
10 | 11 | “BFO:0000002” | “biolink:subclass_of” | “BFO:0000001” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:bfo” | “phenio_edges” | “urn:uuid:f5d75c5f-6a65-4a40-acf2-1ba715e245c6” | c(“biolink:Association”, “biolink:Entity”) |
11 | 12 | “BFO:0000001” | “biolink:subclass_of” | “owl:Thing” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:bfo” | “phenio_edges” | “urn:uuid:7f628f6d-3f60-4898-934c-a18db64cdf48” | c(“biolink:Association”, “biolink:Entity”) |
1 | 13 | “HP:0000708” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4c7f296f-0872-48ff-adb4-0b7dd7ddde93” | c(“biolink:Association”, “biolink:Entity”) |
13 | 14 | “HP:0011446” | “biolink:subclass_of” | “HP:0012638” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:52d9ad85-db50-4285-90c1-da3057a352dd” | c(“biolink:Association”, “biolink:Entity”) |
14 | 15 | “HP:0012638” | “biolink:subclass_of” | “UPHENO:0002433” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:2b03b16f-1261-4e20-85d0-af0d61bcc462” | c(“biolink:Association”, “biolink:Entity”) |
15 | 16 | “UPHENO:0002433” | “biolink:subclass_of” | “UPHENO:0002332” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:46beab44-686a-4b58-a10a-3f13e5e7b13c” | c(“biolink:Association”, “biolink:Entity”) |
16 | 17 | “UPHENO:0002332” | “biolink:subclass_of” | “UPHENO:0075696” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:e2f92bda-1d34-41bb-aa33-a4d63e4b63ad” | c(“biolink:Association”, “biolink:Entity”) |
17 | 18 | “UPHENO:0075696” | “biolink:subclass_of” | “UPHENO:0002536” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:0169cbea-7d0c-47b9-aaa0-ce0bb3973abf” | c(“biolink:Association”, “biolink:Entity”) |
18 | 6 | “UPHENO:0002536” | “biolink:subclass_of” | “UPHENO:0001002” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:fe482f81-d7dc-47b6-888a-236c0fe12c62” | c(“biolink:Association”, “biolink:Entity”) |
16 | 19 | “UPHENO:0002332” | “biolink:subclass_of” | “UPHENO:0082875” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:d6d19f9e-e173-4c7c-8f9e-bab3567617ee” | c(“biolink:Association”, “biolink:Entity”) |
19 | 18 | “UPHENO:0082875” | “biolink:subclass_of” | “UPHENO:0002536” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:66e89a75-d632-486e-a854-9f18ea06bb8d” | c(“biolink:Association”, “biolink:Entity”) |
15 | 20 | “UPHENO:0002433” | “biolink:subclass_of” | “UPHENO:0004523” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:bdc42acc-7a3b-4dbc-91d8-3500d93adad6” | c(“biolink:Association”, “biolink:Entity”) |
20 | 18 | “UPHENO:0004523” | “biolink:subclass_of” | “UPHENO:0002536” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:18ae929d-d066-47f2-8d8f-c2ecc6cdc2df” | c(“biolink:Association”, “biolink:Entity”) |
14 | 21 | “HP:0012638” | “biolink:subclass_of” | “HP:0000707” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fa9d30dd-0c18-4a6c-bdd9-93de51aab1ce” | c(“biolink:Association”, “biolink:Entity”) |
21 | 22 | “HP:0000707” | “biolink:subclass_of” | “HP:0000118” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d080714e-d81c-4008-a3f1-dbb05946b861” | c(“biolink:Association”, “biolink:Entity”) |
22 | 23 | “HP:0000118” | “biolink:subclass_of” | “UPHENO:0001005” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:a3116e7f-169d-4523-89df-0baf541e1a3b” | c(“biolink:Association”, “biolink:Entity”) |
23 | 6 | “UPHENO:0001005” | “biolink:subclass_of” | “UPHENO:0001002” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:2cb36138-94c4-45c9-bee0-d33fdc7fe282” | c(“biolink:Association”, “biolink:Entity”) |
23 | 24 | “UPHENO:0001005” | “biolink:subclass_of” | “UPHENO:0001003” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:f9f99f57-6044-4390-9858-14fe917802c0” | c(“biolink:Association”, “biolink:Entity”) |
24 | 7 | “UPHENO:0001003” | “biolink:subclass_of” | “UPHENO:0001001” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:dfceed2a-3d90-48a6-8c87-7c794c944952” | c(“biolink:Association”, “biolink:Entity”) |
22 | 25 | “HP:0000118” | “biolink:subclass_of” | “HP:0000001” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:52d5587c-a23f-418d-a0d2-52fc97520729” | c(“biolink:Association”, “biolink:Entity”) |
25 | 12 | “HP:0000001” | “biolink:subclass_of” | “owl:Thing” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3a730158-6b50-47f2-91ae-78db2ef46f11” | c(“biolink:Association”, “biolink:Entity”) |
21 | 20 | “HP:0000707” | “biolink:subclass_of” | “UPHENO:0004523” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:41b12cc8-fc3a-4eab-82c3-f60a5b8117f3” | c(“biolink:Association”, “biolink:Entity”) |
1 | 26 | “HP:0000708” | “biolink:subclass_of” | “UPHENO:0080585” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:8472b346-261a-4426-b751-b9413456f1ca” | c(“biolink:Association”, “biolink:Entity”) |
26 | 3 | “UPHENO:0080585” | “biolink:subclass_of” | “UPHENO:0049622” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:85abd002-0b9e-4f3b-84e9-1636351f34cd” | c(“biolink:Association”, “biolink:Entity”) |
Over 700 subtypes of atypical behavior, and 26 ancestors; let’s plot the latter to see if there are more general terms we should consider.
quickplot(atypical_behaviors_anc)
So there are a two higher-level entities that we might use instead of Atypical behavior - “abnormal behavior” and “Abnormality of mental function.” Let’s get the subtypes of both of those.
atypical_behaviors <- atypical_behaviors_anc |>
activate(nodes) |>
filter(name == "abnormal behavior") |>
expand(predicates = "biolink:subclass_of", direction = "in", transitive = TRUE)
Next, the complete subtypes for “Abnormality of mental function”.
atypical_mental_functions <- atypical_behaviors_anc |>
activate(nodes) |>
filter(name == "Abnormality of mental function") |>
expand(predicates = "biolink:subclass_of", direction = "in", transitive = TRUE)
atypical_mental_functions
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) |
---|---|---|---|---|---|---|---|---|
“HP:0011446” | “biolink:PhenotypicFeature” | “Abnormality of mental function” | “Cognitive, psychiatric, or memory anomaly.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011446” | “UMLS:C4023352” | “phenio_nodes” |
“HP:0000708” | “biolink:PhenotypicFeature” | “Atypical behavior” | “Atypical behavior is an abnormality in a person’s actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual’s will.” | c(“Behavioral abnormality”, “Behavioral changes”, “Behavioral disorders”, “Behavioral disturbances”, “Behavioral problems”, “Behavioral symptoms”, “Behavioral/psychiatric abnormalities”, “Behavioural abnormality”, “Behavioural changes”, “Behavioural disorders”, “Behavioural disturbances”, “Behavioural problems”, “Behavioural symptoms”, “Behavioural/Psychiatric abnormality”, “Psychiatric disorders”, “Psychiatric disturbances”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000708” | c(“MSH:D000066553”, “MSH:D001526”, “SNOMEDCT_US:25786006”, “SNOMEDCT_US:277843001”, “UMLS:C0004941”, “UMLS:C0233514”) | “phenio_nodes” |
“HP:0000738” | “biolink:PhenotypicFeature” | “Hallucinations” | “Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.” | c(“Hallucination”, “Hallucinations”, “Sensory hallucination”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000738” | c(“MSH:D006212”, “SNOMEDCT_US:7011001”, “UMLS:C0018524”, “UMLS:C0235153”) | “phenio_nodes” |
“HP:0006896” | “biolink:PhenotypicFeature” | “Hypnopompic hallucinations” | “Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006896” | c(“MSH:D006212”, “SNOMEDCT_US:69690008”, “UMLS:C0424082”) | “phenio_nodes” |
“HP:0002519” | “biolink:PhenotypicFeature” | “Hypnagogic hallucinations” | “Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002519” | c(“MSH:D006212”, “SNOMEDCT_US:44780000”, “UMLS:C0233773”) | “phenio_nodes” |
“HP:0008765” | “biolink:PhenotypicFeature” | “Auditory hallucinations” | “The false perception of sound.” | c(“Hallucinations of sound”, “Hearing sounds”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008765” | c(“MSH:D006212”, “SNOMEDCT_US:45150006”, “UMLS:C0233762”) | “phenio_nodes” |
“HP:0006803” | “biolink:PhenotypicFeature” | “Vivid hallucinations” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006803” | “UMLS:C4024978” | “phenio_nodes” |
“HP:0033694” | “biolink:PhenotypicFeature” | “Tactile hallucination” | “The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.” | “Tactile hallucinations” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033694” | NA | “phenio_nodes” |
“HP:0002367” | “biolink:PhenotypicFeature” | “Visual hallucinations” | “Visual perceptions that are not elicited by a corresponding stimulus from the outside world.” | “Visual hallucinations” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002367” | c(“MSH:D006212”, “SNOMEDCT_US:64269007”, “UMLS:C0233763”) | “phenio_nodes” |
“HP:0000709” | “biolink:PhenotypicFeature” | “Psychosis” | “A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.” | “Psychosis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000709” | c(“MSH:D011618”, “SNOMEDCT_US:69322001”, “UMLS:C0033975”) | “phenio_nodes” |
“HP:0001345” | “biolink:PhenotypicFeature” | “Psychotic mentation” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001345” | “UMLS:C4025789” | “phenio_nodes” |
“HP:0000725” | “biolink:PhenotypicFeature” | “Psychotic episodes” | NA | “Psychotic episodes” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000725” | “UMLS:C0338614” | “phenio_nodes” |
“HP:0006932” | “biolink:PhenotypicFeature” | “Transient psychotic episodes” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006932” | “UMLS:C4024958” | “phenio_nodes” |
“HP:0100753” | “biolink:PhenotypicFeature” | “Schizophrenia” | “A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0100753” | c(“MSH:D012559”, “SNOMEDCT_US:191526005”, “SNOMEDCT_US:58214004”, “UMLS:C0036341”) | “phenio_nodes” |
“HP:0000496” | “biolink:PhenotypicFeature” | “Abnormality of eye movement” | “An abnormality in voluntary or involuntary eye movements or their control.” | c(“Abnormal extraocular movement”, “Abnormal extraocular movements”, “Abnormal eye motility”, “Abnormal eye movement”, “Abnormal eye movements”, “Abnormal motility of the globe of the eye”, “Abnormal movement of the globe of the eye”, “Abnormal ocular movements”, “Abnormality of eye movement”, “Eye movement abnormalities”, “Eye movement issue”, “Ocular movement abnormalities”, “Oculomotor abnormalities”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000496” | c(“SNOMEDCT_US:103252009”, “UMLS:C0497202”) | “phenio_nodes” |
“HP:0007941” | “biolink:PhenotypicFeature” | “Limited extraocular movements” | “Limited mobility of the eye within its socket.” | “Limited extraocular movement” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007941” | “UMLS:C1858427” | “phenio_nodes” |
“HP:0025721” | “biolink:PhenotypicFeature” | “Limited vertical extraocular movement” | “Limited mobility of the eye to move up and down (vertically) within its socket.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025721” | NA | “phenio_nodes” |
“HP:0025720” | “biolink:PhenotypicFeature” | “Limited horizontal extraocular movement” | “Limited mobility of the eye to move from side to side (horizontally) within its socket.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025720” | NA | “phenio_nodes” |
“HP:0000617” | “biolink:PhenotypicFeature” | “Abnormality of ocular smooth pursuit” | “An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.” | c(“Abnormal smooth pursuits”, “Disrupted ocular pursuit movements”, “Impaired smooth pursuit ocular movements”, “Irregular visual pursuit movements”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000617” | “UMLS:C1836393” | “phenio_nodes” |
“HP:0001152” | “biolink:PhenotypicFeature” | “Saccadic smooth pursuit” | “An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.” | c(“Saccadic pursuit movements”, “Saccadic slow pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001152” | “UMLS:C1836479” | “phenio_nodes” |
“HP:0007792” | “biolink:PhenotypicFeature” | “Microsaccadic pursuit” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007792” | “UMLS:C1843892” | “phenio_nodes” |
“HP:0007944” | “biolink:PhenotypicFeature” | “Intermittent microsaccadic pursuits” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007944” | “UMLS:C4024768” | “phenio_nodes” |
“HP:0007772” | “biolink:PhenotypicFeature” | “Impaired smooth pursuit” | “An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.” | c(“Abnormal visual pursuit”, “Abnormality of visual tracking”, “Impairment of visual pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007772” | c(“UMLS:C1837458”, “UMLS:C1848530”) | “phenio_nodes” |
“HP:0007179” | “biolink:PhenotypicFeature” | “Absent smooth pursuit” | “A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007179” | “UMLS:C4024928” | “phenio_nodes” |
“HP:0001151” | “biolink:PhenotypicFeature” | “Impaired horizontal smooth pursuit” | “An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.” | c(“Abnormal horizontal ocular pursuit”, “Impaired horizontal visual pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001151” | “UMLS:C1866753” | “phenio_nodes” |
“HP:0008003” | “biolink:PhenotypicFeature” | “Jerky ocular pursuit movements” | NA | “Jerky smooth pursuit” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008003” | “UMLS:C1853558” | “phenio_nodes” |
“HP:0007668” | “biolink:PhenotypicFeature” | “Impaired pursuit initiation and maintenance” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007668” | “UMLS:C1969722” | “phenio_nodes” |
“HP:0025404” | “biolink:PhenotypicFeature” | “Abnormal visual fixation” | “Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025404” | NA | “phenio_nodes” |
“HP:0025405” | “biolink:PhenotypicFeature” | “Visual fixation instability” | “A deficit in the ability to fixate eye movements in order to stabilize images on the retina” | “Instability of ocular fixation” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025405” | NA | “phenio_nodes” |
“HP:0025549” | “biolink:PhenotypicFeature” | “Eccentric visual fixation” | “A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.” | “Eccentric fixation” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025549” | NA | “phenio_nodes” |
“HP:0031769” | “biolink:PhenotypicFeature” | “Peripheral fixation” | “Fixation of an object in a peripheral area of the retina.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031769” | NA | “phenio_nodes” |
“HP:0031768” | “biolink:PhenotypicFeature” | “Parafoveal fixation” | “Fixation of an object in the area adjacent to the fovea.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031768” | NA | “phenio_nodes” |
“HP:0500072” | “biolink:PhenotypicFeature” | “Absolute eccentric fixation” | “Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500072” | NA | “phenio_nodes” |
“HP:0000549” | “biolink:PhenotypicFeature” | “Abnormal conjugate eye movement” | “Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.” | “Disconjugate eye movements” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000549” | “UMLS:C1845274” | “phenio_nodes” |
“HP:0000605” | “biolink:PhenotypicFeature” | “Supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | “Supranuclear gaze paralysis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000605” | c(“SNOMEDCT_US:420675003”, “UMLS:C1720037”) | “phenio_nodes” |
“HP:0007817” | “biolink:PhenotypicFeature” | “Horizontal supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007817” | “UMLS:C4024794” | “phenio_nodes” |
“HP:0000511” | “biolink:PhenotypicFeature” | “Vertical supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | “Vertical gaze palsy” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000511” | c(“SNOMEDCT_US:246773002”, “UMLS:C0339652”, “UMLS:C1843369”) | “phenio_nodes” |
“HP:0025331” | “biolink:PhenotypicFeature” | “Upgaze palsy” | “A limitation of the ability to direct one’s gaze above the horizontal meridian.” | c(“Supranuclear upgaze palsy”, “Upgaze paresis”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025331” | NA | “phenio_nodes” |
“HP:0025330” | “biolink:PhenotypicFeature” | “Downgaze palsy” | “A limitation of the ability to direct one’s gaze below the horizontal meridian.” | c(“Downgaze paresis”, “Supranuclear downgaze palsy”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025330” | NA | “phenio_nodes” |
“HP:0000486” | “biolink:PhenotypicFeature” | “Strabismus” | “A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.” | c(“Cross-eyed”, “Squint”, “Squint eyes”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000486” | c(“MSH:D013285”, “SNOMEDCT_US:128602000”, “SNOMEDCT_US:22066006”, “UMLS:C0038379”) | “phenio_nodes” |
“HP:0020049” | “biolink:PhenotypicFeature” | “Exodeviation” | “A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.” | “Divergent strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020049” | NA | “phenio_nodes” |
“HP:0000577” | “biolink:PhenotypicFeature” | “Exotropia” | “A form of strabismus with one or both eyes deviated outward.” | “Outward facing eye ball” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000577” | c(“MSH:D005099”, “SNOMEDCT_US:399054005”, “SNOMEDCT_US:399252000”, “UMLS:C0015310”) | “phenio_nodes” |
“HP:0031721” | “biolink:PhenotypicFeature” | “Sensory exotropia” | “A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.” | “Secondary exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031721” | NA | “phenio_nodes” |
“HP:0031714” | “biolink:PhenotypicFeature” | “Distance exotropia” | “A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031714” | NA | “phenio_nodes” |
“HP:0031720” | “biolink:PhenotypicFeature” | “Simulated distance exotropia” | “Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031720” | NA | “phenio_nodes” |
“HP:0031719” | “biolink:PhenotypicFeature” | “True distance exotropia” | “Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031719” | NA | “phenio_nodes” |
“HP:0031716” | “biolink:PhenotypicFeature” | “Cyclic exotropia” | “A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031716” | NA | “phenio_nodes” |
“HP:0031715” | “biolink:PhenotypicFeature” | “Near exotropia” | “An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031715” | NA | “phenio_nodes” |
“HP:0031718” | “biolink:PhenotypicFeature” | “Consecutive exotropia” | “Exotropia in an individual who has previously had esotropia or esophoria.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031718” | NA | “phenio_nodes” |
“HP:0031713” | “biolink:PhenotypicFeature” | “Constant exotropia” | “A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031713” | NA | “phenio_nodes” |
“HP:0032009” | “biolink:PhenotypicFeature” | “Infantile constant exotropia” | “Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.” | “Infantile (constant) exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032009” | NA | “phenio_nodes” |
“HP:0032010” | “biolink:PhenotypicFeature” | “Basic constant exotropia” | “Constant exotropia for near and distance, presenting after 6 months of age.” | “Basic (constant) exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032010” | NA | “phenio_nodes” |
“HP:0031717” | “biolink:PhenotypicFeature” | “Alternating exotropia” | “A type of exotropia in which either eye may be used for fixation.” | “Alternating strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031717” | NA | “phenio_nodes” |
“HP:0025313” | “biolink:PhenotypicFeature” | “Exophoria” | “A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025313” | NA | “phenio_nodes” |
“HP:0010877” | “biolink:PhenotypicFeature” | “Monocular strabismus” | “A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes ‘squints’ at different times.” | “Unilateral strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010877” | “UMLS:C4023678” | “phenio_nodes” |
“HP:0032012” | “biolink:PhenotypicFeature” | “Heterotropia” | “Manifest deviation of the visual axes not controlled by fusion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032012” | NA | “phenio_nodes” |
“HP:0000565” | “biolink:PhenotypicFeature” | “Esotropia” | “A form of strabismus with one or both eyes turned inward (‘crossed’) to a relatively severe degree, usually defined as 10 diopters or more.” | “Inward turning cross eyed” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000565” | c(“MSH:D004948”, “SNOMEDCT_US:16596007”, “UMLS:C0014877”) | “phenio_nodes” |
“HP:0020046” | “biolink:PhenotypicFeature” | “Accommodative esotropia” | “A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020046” | NA | “phenio_nodes” |
“HP:0031766” | “biolink:PhenotypicFeature” | “Convergence excess esotropia” | “An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031766” | NA | “phenio_nodes” |
“HP:0031765” | “biolink:PhenotypicFeature” | “Partially accomodative esotropia” | “A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.” | c(“Constant esotropia with an accommodative component”, “Constant esotropia with an accommodative element”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031765” | NA | “phenio_nodes” |
“HP:0031764” | “biolink:PhenotypicFeature” | “Fully accomodative esotropia” | “Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031764” | NA | “phenio_nodes” |
“HP:0031723” | “biolink:PhenotypicFeature” | “Secondary esotropia” | “Convergent squint which follows loss or impairment of vision.” | “Sensory esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031723” | NA | “phenio_nodes” |
“HP:0031767” | “biolink:PhenotypicFeature” | “Consecutive esotropia” | “Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031767” | NA | “phenio_nodes” |
“HP:0031760” | “biolink:PhenotypicFeature” | “Non-accomodative esotropia” | “A form of esotropia in which the angle of deviation is not affected by accommodative effort.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031760” | NA | “phenio_nodes” |
“HP:0031759” | “biolink:PhenotypicFeature” | “Basic constant esotropia” | “A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).” | “Basic (constant) esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031759” | NA | “phenio_nodes” |
“HP:0031762” | “biolink:PhenotypicFeature” | “Distance esotropia” | “An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.” | “Divergence insufficiency” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031762” | NA | “phenio_nodes” |
“HP:0031722” | “biolink:PhenotypicFeature” | “Near esotropia” | “An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.” | “Non-accomodative convergence excess esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031722” | NA | “phenio_nodes” |
“HP:0031763” | “biolink:PhenotypicFeature” | “Cyclic esotropia” | “Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031763” | NA | “phenio_nodes” |
“HP:0031761” | “biolink:PhenotypicFeature” | “Infantile constant esotropia” | “Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.” | “Infantile (constant) esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031761” | NA | “phenio_nodes” |
“HP:0001137” | “biolink:PhenotypicFeature” | “Alternating esotropia” | “Esotropia in which either eye may be used for fixation.” | “Alternating cross eyes” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001137” | c(“SNOMEDCT_US:39837002”, “UMLS:C0152205”) | “phenio_nodes” |
“HP:0025584” | “biolink:PhenotypicFeature” | “Hypotropia” | “A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025584” | NA | “phenio_nodes” |
“HP:0500078” | “biolink:PhenotypicFeature” | “Alternating hypotropia” | “A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500078” | NA | “phenio_nodes” |
“HP:0025586” | “biolink:PhenotypicFeature” | “Hypertropia” | “A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025586” | NA | “phenio_nodes” |
“HP:0500076” | “biolink:PhenotypicFeature” | “Alternating hypertropia” | “A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500076” | NA | “phenio_nodes” |
“HP:0031776” | “biolink:PhenotypicFeature” | “Cyclotropia” | “A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031776” | NA | “phenio_nodes” |
“HP:0031727” | “biolink:PhenotypicFeature” | “Excyclotropia” | “A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031727” | NA | “phenio_nodes” |
“HP:0031726” | “biolink:PhenotypicFeature” | “Incyclotropia” | “A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031726” | NA | “phenio_nodes” |
“HP:0031724” | “biolink:PhenotypicFeature” | “Microtropia” | “A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031724” | NA | “phenio_nodes” |
“HP:0031781” | “biolink:PhenotypicFeature” | “Microtropia with identity” | “A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031781” | NA | “phenio_nodes” |
“HP:0031782” | “biolink:PhenotypicFeature” | “Microtropia without identity” | “A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031782” | NA | “phenio_nodes” |
“HP:0025068” | “biolink:PhenotypicFeature” | “Incomitant strabismus” | “Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025068” | NA | “phenio_nodes” |
“HP:0009921” | “biolink:PhenotypicFeature” | “Duane anomaly” | “A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction” | c(“Globe retraction and deviation on adduction”, “Limited eye motility from Duane anomaly”, “Limited eye movement from Duane anomaly”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0009921” | c(“MSH:D004370”, “SNOMEDCT_US:60318001”, “UMLS:C0013261”, “UMLS:C1846464”, “UMLS:C4072873”) | “phenio_nodes” |
“HP:0020043” | “biolink:PhenotypicFeature” | “Vertical incomitant strabismus” | “A type of incomitant strabismus in which the angle of deviation varies as the patient’s gaze shifts upwards and/or downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020043” | NA | “phenio_nodes” |
“HP:0020042” | “biolink:PhenotypicFeature” | “Double depressor palsy” | “An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020042” | NA | “phenio_nodes” |
“HP:0031622” | “biolink:PhenotypicFeature” | “Brown anomaly” | “An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.” | “Brown syndrome” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031622” | NA | “phenio_nodes” |
“HP:0020041” | “biolink:PhenotypicFeature” | “Double elevator palsy” | “A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020041” | NA | “phenio_nodes” |
“HP:0020044” | “biolink:PhenotypicFeature” | “Horizontal incomitant strabismus” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020044” | NA | “phenio_nodes” |
“HP:0025589” | “biolink:PhenotypicFeature” | “Cyclodeviation” | “Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025589” | NA | “phenio_nodes” |
“HP:0031777” | “biolink:PhenotypicFeature” | “Cyclophoria” | “A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031777” | NA | “phenio_nodes” |
“HP:0031778” | “biolink:PhenotypicFeature” | “Incyclophoria” | “A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031778” | NA | “phenio_nodes” |
“HP:0031779” | “biolink:PhenotypicFeature” | “Excyclophoria” | “A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031779” | NA | “phenio_nodes” |
“HP:0025069” | “biolink:PhenotypicFeature” | “Concomitant strabismus” | “Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.” | “Comitant strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025069” | NA | “phenio_nodes” |
“HP:0025587” | “biolink:PhenotypicFeature” | “Hyperdeviation” | “A type of strabismus in which the visual axis of one eye is higher than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025587” | NA | “phenio_nodes” |
“HP:0025585” | “biolink:PhenotypicFeature” | “Hyperphoria” | “Tendency for the visual axis of one eye to be higher than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025585” | NA | “phenio_nodes” |
“HP:0500077” | “biolink:PhenotypicFeature” | “Alternating hyperphoria” | “A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500077” | NA | “phenio_nodes” |
“HP:0025588” | “biolink:PhenotypicFeature” | “Hypodeviation” | “A type of strabismus in which the visual axis of one eye is lower than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025588” | NA | “phenio_nodes” |
“HP:0031725” | “biolink:PhenotypicFeature” | “Hypophoria” | “A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031725” | NA | “phenio_nodes” |
“HP:0500079” | “biolink:PhenotypicFeature” | “Alternating hypophoria” | “A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500079” | NA | “phenio_nodes” |
“HP:0032011” | “biolink:PhenotypicFeature” | “Heterophoria” | “Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032011” | NA | “phenio_nodes” |
“HP:0025312” | “biolink:PhenotypicFeature” | “Esophoria” | “A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025312” | NA | “phenio_nodes” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “HP:0000708” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4c7f296f-0872-48ff-adb4-0b7dd7ddde93” | c(“biolink:Association”, “biolink:Entity”) |
3 | 2 | “HP:0000738” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ec28353d-fee3-498f-b3db-3614e7d58cd7” | c(“biolink:Association”, “biolink:Entity”) |
4 | 3 | “HP:0006896” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:821bb47c-90a4-4bbd-9878-aee67f7bbce4” | c(“biolink:Association”, “biolink:Entity”) |
5 | 3 | “HP:0002519” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5dc954a4-6886-48a2-8227-6f1c828a8261” | c(“biolink:Association”, “biolink:Entity”) |
6 | 3 | “HP:0008765” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3da0826d-83e8-41ce-9d4a-31eb5ca56632” | c(“biolink:Association”, “biolink:Entity”) |
7 | 3 | “HP:0006803” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:588d17f2-cd18-41a1-87c2-f79d055df410” | c(“biolink:Association”, “biolink:Entity”) |
8 | 3 | “HP:0033694” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f2cd451e-ec74-4d09-8fab-47c33034ac8f” | c(“biolink:Association”, “biolink:Entity”) |
9 | 3 | “HP:0002367” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9927fb91-15f8-4051-a739-9d3f442c918b” | c(“biolink:Association”, “biolink:Entity”) |
10 | 2 | “HP:0000709” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c2e030e7-3e24-480a-a8bc-3b0c766e9d79” | c(“biolink:Association”, “biolink:Entity”) |
11 | 10 | “HP:0001345” | “biolink:subclass_of” | “HP:0000709” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fc9433ff-4833-47bc-a813-2eb7464a31f5” | c(“biolink:Association”, “biolink:Entity”) |
12 | 10 | “HP:0000725” | “biolink:subclass_of” | “HP:0000709” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:05d8f41f-e303-4a85-a9e4-22f0b359ec7e” | c(“biolink:Association”, “biolink:Entity”) |
13 | 12 | “HP:0006932” | “biolink:subclass_of” | “HP:0000725” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e4409dc1-a71e-4af9-aa54-1b993d4ea78c” | c(“biolink:Association”, “biolink:Entity”) |
14 | 2 | “HP:0100753” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8d6edf5a-14d2-4c59-90e5-5310397b3143” | c(“biolink:Association”, “biolink:Entity”) |
15 | 2 | “HP:0000496” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f95deeb4-467a-4ce2-9325-7955ecac464a” | c(“biolink:Association”, “biolink:Entity”) |
16 | 15 | “HP:0007941” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2cd098e2-f699-4703-8b30-1fe287294537” | c(“biolink:Association”, “biolink:Entity”) |
17 | 16 | “HP:0025721” | “biolink:subclass_of” | “HP:0007941” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ffa1d62f-d95f-47e4-b9eb-450ba647c478” | c(“biolink:Association”, “biolink:Entity”) |
18 | 16 | “HP:0025720” | “biolink:subclass_of” | “HP:0007941” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:bd90bad2-ac98-4c7e-9417-72e87c9ca8ba” | c(“biolink:Association”, “biolink:Entity”) |
19 | 15 | “HP:0000617” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:851ac639-e465-462c-9acb-ca68322c8a68” | c(“biolink:Association”, “biolink:Entity”) |
20 | 19 | “HP:0001152” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1cc3a68d-5ab4-44e5-a4e4-c8055f467ebc” | c(“biolink:Association”, “biolink:Entity”) |
21 | 20 | “HP:0007792” | “biolink:subclass_of” | “HP:0001152” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e30203b9-b819-4d60-be20-04acc6038168” | c(“biolink:Association”, “biolink:Entity”) |
22 | 20 | “HP:0007944” | “biolink:subclass_of” | “HP:0001152” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:752b4bea-5b0c-45ee-b08c-92e6ba6a3403” | c(“biolink:Association”, “biolink:Entity”) |
23 | 19 | “HP:0007772” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ed4f655b-976a-489e-b75c-cb87f929fdc1” | c(“biolink:Association”, “biolink:Entity”) |
24 | 23 | “HP:0007179” | “biolink:subclass_of” | “HP:0007772” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0ad79ae9-b3db-472e-b73b-be8445838be2” | c(“biolink:Association”, “biolink:Entity”) |
25 | 23 | “HP:0001151” | “biolink:subclass_of” | “HP:0007772” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9f22fa8b-1510-4a97-b6c3-f1d06a14d457” | c(“biolink:Association”, “biolink:Entity”) |
26 | 19 | “HP:0008003” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:953d9f9e-2ee7-49c6-972b-fc9df206a0fe” | c(“biolink:Association”, “biolink:Entity”) |
27 | 19 | “HP:0007668” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4551df30-a9b7-42a4-b81d-f3bad0ec16b3” | c(“biolink:Association”, “biolink:Entity”) |
28 | 15 | “HP:0025404” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:14452f2d-f881-4b3a-98c1-1fd8907b0949” | c(“biolink:Association”, “biolink:Entity”) |
29 | 28 | “HP:0025405” | “biolink:subclass_of” | “HP:0025404” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8c988f49-5bf4-47e2-b920-03ab7807a675” | c(“biolink:Association”, “biolink:Entity”) |
30 | 28 | “HP:0025549” | “biolink:subclass_of” | “HP:0025404” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:36faac0b-ede4-4271-906c-1c8561e1bddb” | c(“biolink:Association”, “biolink:Entity”) |
31 | 30 | “HP:0031769” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:39b695e1-ca3c-4a36-a8d2-6bed3f2b1459” | c(“biolink:Association”, “biolink:Entity”) |
32 | 30 | “HP:0031768” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f879f962-a6f2-40b1-ad84-381e4070c545” | c(“biolink:Association”, “biolink:Entity”) |
33 | 30 | “HP:0500072” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f3548dc0-cb74-4127-b84c-b9b9400e8896” | c(“biolink:Association”, “biolink:Entity”) |
34 | 15 | “HP:0000549” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3194d14f-382f-4014-906e-7b5aa34354e5” | c(“biolink:Association”, “biolink:Entity”) |
35 | 34 | “HP:0000605” | “biolink:subclass_of” | “HP:0000549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:78685fdd-b61b-47ad-a36b-2ceb0b86ee3d” | c(“biolink:Association”, “biolink:Entity”) |
36 | 35 | “HP:0007817” | “biolink:subclass_of” | “HP:0000605” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f0601b99-fc36-4068-82c8-64a7bef44097” | c(“biolink:Association”, “biolink:Entity”) |
37 | 35 | “HP:0000511” | “biolink:subclass_of” | “HP:0000605” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:11cee6e3-3f48-4ccc-b235-a45951f5251a” | c(“biolink:Association”, “biolink:Entity”) |
38 | 37 | “HP:0025331” | “biolink:subclass_of” | “HP:0000511” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e00fba8b-5443-4541-b2a3-9aac7aae8e75” | c(“biolink:Association”, “biolink:Entity”) |
39 | 37 | “HP:0025330” | “biolink:subclass_of” | “HP:0000511” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5612b2a8-ab08-4572-ab0b-ed34c83c2d43” | c(“biolink:Association”, “biolink:Entity”) |
40 | 34 | “HP:0000486” | “biolink:subclass_of” | “HP:0000549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:610a4507-877e-4b0e-b38f-b8f75f7a4e08” | c(“biolink:Association”, “biolink:Entity”) |
41 | 40 | “HP:0020049” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:03e31b35-03c1-4afa-97b3-b6a0095ed793” | c(“biolink:Association”, “biolink:Entity”) |
42 | 41 | “HP:0000577” | “biolink:subclass_of” | “HP:0020049” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:287503ec-c569-461a-8e8c-807b92453b47” | c(“biolink:Association”, “biolink:Entity”) |
43 | 42 | “HP:0031721” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fe944341-b4d2-41ad-8e3a-60bd5f2701e4” | c(“biolink:Association”, “biolink:Entity”) |
44 | 42 | “HP:0031714” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:93c36f63-ae1c-4be9-a228-f7d9d679b464” | c(“biolink:Association”, “biolink:Entity”) |
45 | 44 | “HP:0031720” | “biolink:subclass_of” | “HP:0031714” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6f202337-a386-4e8c-b53c-369cd09062e8” | c(“biolink:Association”, “biolink:Entity”) |
46 | 44 | “HP:0031719” | “biolink:subclass_of” | “HP:0031714” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:46eace7b-e6d4-4ba8-9fdc-7898b94c56de” | c(“biolink:Association”, “biolink:Entity”) |
47 | 42 | “HP:0031716” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6c1410b0-79a0-4c65-89c5-b0ff6a77e405” | c(“biolink:Association”, “biolink:Entity”) |
48 | 42 | “HP:0031715” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9b166755-abd3-4cc8-bbff-e3452e3afb70” | c(“biolink:Association”, “biolink:Entity”) |
49 | 42 | “HP:0031718” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5535f708-8a9d-4ec1-8972-7d9afe839d94” | c(“biolink:Association”, “biolink:Entity”) |
50 | 42 | “HP:0031713” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:08dd64a1-8ad6-4127-a23a-ed8e7af52cba” | c(“biolink:Association”, “biolink:Entity”) |
51 | 50 | “HP:0032009” | “biolink:subclass_of” | “HP:0031713” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a3e7dfe-8d5f-4bd8-a314-01fe64ec0b92” | c(“biolink:Association”, “biolink:Entity”) |
52 | 50 | “HP:0032010” | “biolink:subclass_of” | “HP:0031713” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0d3c2feb-e491-4177-a8c4-1f378e99ca2e” | c(“biolink:Association”, “biolink:Entity”) |
53 | 42 | “HP:0031717” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e5dcffa0-6ef9-40d5-91cd-10e6ad2b11e8” | c(“biolink:Association”, “biolink:Entity”) |
54 | 41 | “HP:0025313” | “biolink:subclass_of” | “HP:0020049” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:932954fe-7a68-4e8e-be55-eb2f5ff07b32” | c(“biolink:Association”, “biolink:Entity”) |
55 | 40 | “HP:0010877” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:88934cc6-55d0-4eb1-87fa-24ae5311d299” | c(“biolink:Association”, “biolink:Entity”) |
56 | 40 | “HP:0032012” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:76aa9b81-fdfc-43ea-9e35-32091132822a” | c(“biolink:Association”, “biolink:Entity”) |
57 | 56 | “HP:0000565” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9e89a668-97d0-4eba-aad7-ad83608d60c5” | c(“biolink:Association”, “biolink:Entity”) |
58 | 57 | “HP:0020046” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fbe6a8fb-786a-4e33-88db-7521f57b57b8” | c(“biolink:Association”, “biolink:Entity”) |
59 | 58 | “HP:0031766” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:bb518c83-32be-4f6c-998b-131c7b657665” | c(“biolink:Association”, “biolink:Entity”) |
60 | 58 | “HP:0031765” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:062350da-0a52-4f2a-89e6-7292a1f3b83b” | c(“biolink:Association”, “biolink:Entity”) |
61 | 58 | “HP:0031764” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5a2fa63b-c571-4de8-a74d-456772d1eec5” | c(“biolink:Association”, “biolink:Entity”) |
62 | 57 | “HP:0031723” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1a75b0aa-91ac-4dbf-ad8f-ddb903f84d7a” | c(“biolink:Association”, “biolink:Entity”) |
63 | 57 | “HP:0031767” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:a2067d1c-dc49-4896-b3bd-3579e3cccd41” | c(“biolink:Association”, “biolink:Entity”) |
64 | 57 | “HP:0031760” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3f9bd91e-3f00-4e64-adc0-ba35155b7865” | c(“biolink:Association”, “biolink:Entity”) |
65 | 64 | “HP:0031759” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:23936215-ef01-4332-a8ba-f75afb8ce51d” | c(“biolink:Association”, “biolink:Entity”) |
66 | 64 | “HP:0031762” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9010ba67-99c6-42e7-885a-b242c3e23f82” | c(“biolink:Association”, “biolink:Entity”) |
67 | 64 | “HP:0031722” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b4f3cbec-2379-4ecb-9f72-d6cef89927ec” | c(“biolink:Association”, “biolink:Entity”) |
68 | 64 | “HP:0031763” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4fe60939-52dc-49ab-a26d-43d9442fd64a” | c(“biolink:Association”, “biolink:Entity”) |
69 | 64 | “HP:0031761” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:25852a5e-8a75-4905-865f-e18891d4fd15” | c(“biolink:Association”, “biolink:Entity”) |
70 | 57 | “HP:0001137” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:04e862c9-71df-4013-aa97-cbd053e9f72c” | c(“biolink:Association”, “biolink:Entity”) |
71 | 56 | “HP:0025584” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a7f8cb3-380b-4369-918f-3cf27c76dda9” | c(“biolink:Association”, “biolink:Entity”) |
72 | 71 | “HP:0500078” | “biolink:subclass_of” | “HP:0025584” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2e760a28-74d3-44d7-9f04-e5a0f9e63da5” | c(“biolink:Association”, “biolink:Entity”) |
42 | 56 | “HP:0000577” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:de8739a7-b664-409c-92b8-ae0a0472b0b1” | c(“biolink:Association”, “biolink:Entity”) |
73 | 56 | “HP:0025586” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a4f7bdc-0438-4bbb-a249-7ae0ea899de5” | c(“biolink:Association”, “biolink:Entity”) |
74 | 73 | “HP:0500076” | “biolink:subclass_of” | “HP:0025586” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0c9ac145-8946-4670-bcb1-35aeda7162ba” | c(“biolink:Association”, “biolink:Entity”) |
75 | 56 | “HP:0031776” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4d6c843d-e65f-4cf0-80b1-8620751e86ae” | c(“biolink:Association”, “biolink:Entity”) |
76 | 75 | “HP:0031727” | “biolink:subclass_of” | “HP:0031776” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:af7d7bf9-2892-4e32-9507-e6b677913dc0” | c(“biolink:Association”, “biolink:Entity”) |
77 | 75 | “HP:0031726” | “biolink:subclass_of” | “HP:0031776” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1dd5d90b-9328-4ef7-9be8-2a45c287e71d” | c(“biolink:Association”, “biolink:Entity”) |
78 | 56 | “HP:0031724” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:dec16090-61c1-46cd-8479-2faf5eeb4345” | c(“biolink:Association”, “biolink:Entity”) |
79 | 78 | “HP:0031781” | “biolink:subclass_of” | “HP:0031724” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0ef71ded-0969-4d32-a1d5-06332503c694” | c(“biolink:Association”, “biolink:Entity”) |
80 | 78 | “HP:0031782” | “biolink:subclass_of” | “HP:0031724” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6ec67ed3-9a73-4c08-9de7-831c3f899d37” | c(“biolink:Association”, “biolink:Entity”) |
81 | 40 | “HP:0025068” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:51248dcd-7a49-4c17-83a1-21159fdd2801” | c(“biolink:Association”, “biolink:Entity”) |
82 | 81 | “HP:0009921” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b958c12e-05f6-4854-b8ec-c9225371586f” | c(“biolink:Association”, “biolink:Entity”) |
83 | 81 | “HP:0020043” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7798edaf-74d4-414a-b6cd-6e374a5e3a0d” | c(“biolink:Association”, “biolink:Entity”) |
84 | 81 | “HP:0020042” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d724901b-b721-41c3-9ec8-fcd522d39ef4” | c(“biolink:Association”, “biolink:Entity”) |
85 | 81 | “HP:0031622” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4862176f-6e76-48c2-ae3d-2f9109585bd4” | c(“biolink:Association”, “biolink:Entity”) |
86 | 81 | “HP:0020041” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:18beb838-4df9-4124-ac6c-8eaa99b42910” | c(“biolink:Association”, “biolink:Entity”) |
87 | 81 | “HP:0020044” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:74220b3c-e169-414d-b44c-0171c9e2baa7” | c(“biolink:Association”, “biolink:Entity”) |
88 | 40 | “HP:0025589” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:777691f8-55a3-4d9c-86fe-15a5dbe4486c” | c(“biolink:Association”, “biolink:Entity”) |
75 | 88 | “HP:0031776” | “biolink:subclass_of” | “HP:0025589” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3602cc93-62ff-468d-aebb-7197d838c0b9” | c(“biolink:Association”, “biolink:Entity”) |
89 | 88 | “HP:0031777” | “biolink:subclass_of” | “HP:0025589” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:63fed025-9805-4f7e-ba86-580a7fad4699” | c(“biolink:Association”, “biolink:Entity”) |
90 | 89 | “HP:0031778” | “biolink:subclass_of” | “HP:0031777” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:23eec70b-c374-4bef-b5af-da68bcc5a863” | c(“biolink:Association”, “biolink:Entity”) |
91 | 89 | “HP:0031779” | “biolink:subclass_of” | “HP:0031777” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fa82529a-7fce-450d-8791-4951a0698b3c” | c(“biolink:Association”, “biolink:Entity”) |
92 | 40 | “HP:0025069” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2e90323f-1faa-4ad9-948d-c5bbc7afaee9” | c(“biolink:Association”, “biolink:Entity”) |
93 | 40 | “HP:0025587” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fbb4c4f5-37b5-4256-a698-4ae70a99237c” | c(“biolink:Association”, “biolink:Entity”) |
73 | 93 | “HP:0025586” | “biolink:subclass_of” | “HP:0025587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:64d3e81d-b7cf-4d9c-aa85-1c61a574d0f3” | c(“biolink:Association”, “biolink:Entity”) |
94 | 93 | “HP:0025585” | “biolink:subclass_of” | “HP:0025587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7214fca8-86cc-4eef-a49b-62a8f74c0f0e” | c(“biolink:Association”, “biolink:Entity”) |
95 | 94 | “HP:0500077” | “biolink:subclass_of” | “HP:0025585” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:10edc0cd-35bc-43e7-8509-8a0e595e657f” | c(“biolink:Association”, “biolink:Entity”) |
96 | 40 | “HP:0025588” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6626ea27-25ec-4c73-9b05-b32b1e70b5fa” | c(“biolink:Association”, “biolink:Entity”) |
71 | 96 | “HP:0025584” | “biolink:subclass_of” | “HP:0025588” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c6dfd504-a181-42e6-8e6e-0c4a755e6f8e” | c(“biolink:Association”, “biolink:Entity”) |
97 | 96 | “HP:0031725” | “biolink:subclass_of” | “HP:0025588” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5a88729e-5ffb-44ff-8f72-36f039108400” | c(“biolink:Association”, “biolink:Entity”) |
Let’s filter the nodes in these graphs to see what they have in
common and uniquely. We’ll also add type
labels to the
result for later use, with both
meaning a phenotype that is
a descendant of both Behavioral and Mental abnormalities.
# first: what's in atypical behaviors not in atypical mental functions
behavioral_only <- atypical_behaviors |>
activate(nodes) |>
filter(!id %in% nodes(atypical_mental_functions)$id) |>
mutate(type = "behavioral")
behavioral_only
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) | type |
---|---|---|---|---|---|---|---|---|---|
“UPHENO:0049622” | “biolink:PhenotypicFeature” | “abnormal behavior” | “Abnormal behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0049622” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079826” | “biolink:PhenotypicFeature” | “abnormal behavior process” | “An anomaly in behavior process.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079826” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080581” | “biolink:PhenotypicFeature” | “abnormal eye movement” | “Abnormal eye movement.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080581” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080594” | “biolink:PhenotypicFeature” | “abnormal social behavior” | “Abnormal social behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080594” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080281” | “biolink:PhenotypicFeature” | “decreased social inhibition” | “decreased social inhibition.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080281” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079834” | “biolink:PhenotypicFeature” | “abnormal irritability behavior” | “An anomaly in irritability behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079834” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074398” | “biolink:PhenotypicFeature” | “abnormally decreased rate of bonding behavior” | “Decrease in rate (amount or occurrence per unit of time) of bonding behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074398” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080591” | “biolink:PhenotypicFeature” | “abnormal irritability behavior” | “Abnormal irritability behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080591” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074396” | “biolink:PhenotypicFeature” | “abnormally decreased rate of social inhibition” | “Decrease in rate (amount or occurrence per unit of time) of social inhibition.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074396” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074397” | “biolink:PhenotypicFeature” | “abnormally decreased rate of eye contact” | “Decrease in rate (amount or occurrence per unit of time) of eye contact.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074397” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080287” | “biolink:PhenotypicFeature” | “decreased bonding behavior” | “decreased bonding behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080287” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080286” | “biolink:PhenotypicFeature” | “decreased eye contact” | “decreased eye contact.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080286” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079840” | “biolink:PhenotypicFeature” | “abnormal sexual inhibition” | “An anomaly in sexual inhibition.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079840” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080582” | “biolink:PhenotypicFeature” | “abnormal sexual inhibition” | “Abnormal sexual inhibition.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080582” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0081794” | “biolink:PhenotypicFeature” | “abnormal conditioned taste aversion” | “An anomaly in conditioned taste aversion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0081794” | NA | “phenio_nodes” | “behavioral” |
“MP:0002805” | “biolink:PhenotypicFeature” | “abnormal conditioned taste aversion behavior” | “anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness” | c(“abnormal conditioned taste aversion behaviour”, “conditioned taste aversion anomalies”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0002805” | NA | “phenio_nodes” | “behavioral” |
“MP:0020968” | “biolink:PhenotypicFeature” | “enhanced conditioned taste aversion behavior” | “increase in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness” | c(“enhanced conditioned taste aversion behaviour”, “increased conditioned taste aversion behavior”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0020968” | NA | “phenio_nodes” | “behavioral” |
“MP:0020969” | “biolink:PhenotypicFeature” | “impaired conditioned taste aversion behavior” | “decrease in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness” | c(“decreased conditioned taste aversion behavior”, “impaired conditioned taste aversion behaviour”, “reduced conditioned taste aversion behavior”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0020969” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082947” | “biolink:PhenotypicFeature” | “abnormally increased rate of conditioned taste aversion” | “Increase in rate (amount or occurrence per unit of time) of conditioned taste aversion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082947” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082800” | “biolink:PhenotypicFeature” | “increased conditioned taste aversion” | “Increased conditioned taste aversion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082800” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080550” | “biolink:PhenotypicFeature” | “abnormally decreased rate of conditioned taste aversion” | “Decrease in rate (amount or occurrence per unit of time) of conditioned taste aversion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080550” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080256” | “biolink:PhenotypicFeature” | “decreased conditioned taste aversion” | “decreased conditioned taste aversion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080256” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080276” | “biolink:PhenotypicFeature” | “decreased passive avoidance learning behavior” | “decreased passive avoidance learning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080276” | NA | “phenio_nodes” | “behavioral” |
“MP:0004000” | “biolink:PhenotypicFeature” | “impaired passive avoidance behavior” | “decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0004000” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080579” | “biolink:PhenotypicFeature” | “abnormal conditioned taste aversion” | “Abnormal conditioned taste aversion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080579” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074368” | “biolink:PhenotypicFeature” | “abnormally decreased rate of passive avoidance learning behavior” | “Decrease in rate (amount or occurrence per unit of time) of passive avoidance learning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074368” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0012055” | “biolink:PhenotypicFeature” | “abnormally increased rate of passive avoidance learning behavior” | “Increase in rate (amount or occurrence per unit of time) of passive avoidance learning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0012055” | NA | “phenio_nodes” | “behavioral” |
“MP:0003999” | “biolink:PhenotypicFeature” | “enhanced passive avoidance behavior” | “increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously” | c(“enhanced passive avoidance behaviour”, “improved passive avoidance behavior”, “improved passive avoidance behaviour”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0003999” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0081793” | “biolink:PhenotypicFeature” | “abnormal conditioned emotional response” | “An anomaly in conditioned emotional response.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0081793” | NA | “phenio_nodes” | “behavioral” |
“MP:0002806” | “biolink:PhenotypicFeature” | “abnormal conditioned emotional response” | “anomaly in an emotional response that has been acquired by conditioning” | “conditioned emotional response anomalies” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0002806” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082822” | “biolink:PhenotypicFeature” | “increased passive avoidance learning behavior” | “Increased passive avoidance learning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082822” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080580” | “biolink:PhenotypicFeature” | “abnormal conditioned emotional response” | “Abnormal conditioned emotional response.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080580” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0012048” | “biolink:PhenotypicFeature” | “abnormally increased rate of latent learning behavior” | “Increase in rate (amount or occurrence per unit of time) of latent learning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0012048” | NA | “phenio_nodes” | “behavioral” |
“MP:0006299” | “biolink:PhenotypicFeature” | “abnormal latent inhibition of conditioning behavior” | “anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus” | “abnormal latent inhibition of conditioning behaviour” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0006299” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082820” | “biolink:PhenotypicFeature” | “increased latent learning behavior” | “Increased latent learning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082820” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0012064” | “biolink:PhenotypicFeature” | “abnormally increased rate of cued conditioning behavior” | “Increase in rate (amount or occurrence per unit of time) of cued conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0012064” | NA | “phenio_nodes” | “behavioral” |
“MP:0009456” | “biolink:PhenotypicFeature” | “impaired cued conditioning behavior” | “decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)” | c(“decreased cued conditioning behavior”, “impaired cued conditioning behaviour”, “impaired cued fear conditioning”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0009456” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080265” | “biolink:PhenotypicFeature” | “decreased cued conditioning behavior” | “decreased cued conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080265” | NA | “phenio_nodes” | “behavioral” |
“MP:0009455” | “biolink:PhenotypicFeature” | “enhanced cued conditioning behavior” | “increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)” | c(“enhanced cued conditioning behaviour”, “enhanced cued fear conditioning”, “increased cued conditioning behavior”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0009455” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074378” | “biolink:PhenotypicFeature” | “abnormally decreased rate of cued conditioning behavior” | “Decrease in rate (amount or occurrence per unit of time) of cued conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074378” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082825” | “biolink:PhenotypicFeature” | “increased contextual conditioning behavior” | “Increased contextual conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082825” | NA | “phenio_nodes” | “behavioral” |
“MP:0009453” | “biolink:PhenotypicFeature” | “enhanced contextual conditioning behavior” | “increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)” | “enhanced contextual fear conditioning” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0009453” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0012063” | “biolink:PhenotypicFeature” | “abnormally increased rate of contextual conditioning behavior” | “Increase in rate (amount or occurrence per unit of time) of contextual conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0012063” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080278” | “biolink:PhenotypicFeature” | “decreased conditioned place preference behavior” | “decreased conditioned place preference behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080278” | NA | “phenio_nodes” | “behavioral” |
“MP:0009712” | “biolink:PhenotypicFeature” | “impaired conditioned place preference behavior” | “decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment” | c(“decreased conditioned place preference behavior”, “impaired conditioned place preference behaviour”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0009712” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080279” | “biolink:PhenotypicFeature” | “decreased contextual conditioning behavior” | “decreased contextual conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080279” | NA | “phenio_nodes” | “behavioral” |
“MP:0009454” | “biolink:PhenotypicFeature” | “impaired contextual conditioning behavior” | “decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)” | “impaired contextual fear conditioning” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0009454” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074376” | “biolink:PhenotypicFeature” | “abnormally decreased rate of contextual conditioning behavior” | “Decrease in rate (amount or occurrence per unit of time) of contextual conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074376” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074375” | “biolink:PhenotypicFeature” | “abnormally decreased rate of conditioned place preference behavior” | “Decrease in rate (amount or occurrence per unit of time) of conditioned place preference behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074375” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0012062” | “biolink:PhenotypicFeature” | “abnormally increased rate of conditioned place preference behavior” | “Increase in rate (amount or occurrence per unit of time) of conditioned place preference behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0012062” | NA | “phenio_nodes” | “behavioral” |
“MP:0009713” | “biolink:PhenotypicFeature” | “enhanced conditioned place preference behavior” | “increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment” | c(“enhanced conditioned place preference behaviour”, “increased conditioned place preference behavior”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0009713” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082824” | “biolink:PhenotypicFeature” | “increased conditioned place preference behavior” | “Increased conditioned place preference behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082824” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082807” | “biolink:PhenotypicFeature” | “increased cued conditioning behavior” | “Increased cued conditioning behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082807” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079828” | “biolink:PhenotypicFeature” | “abnormal eye movement” | “An anomaly in eye movement.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079828” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079830” | “biolink:PhenotypicFeature” | “abnormal regulation of behavior” | “An anomaly in regulation of behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079830” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080250” | “biolink:PhenotypicFeature” | “decreased regulation of consumption of an addictive substance” | “decreased regulation of consumption of an addictive substance.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080250” | NA | “phenio_nodes” | “behavioral” |
“MP:0002554” | “biolink:PhenotypicFeature” | “aversion to addictive substance” | “purposeful avoidance of an addictive substance due to dislike” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0002554” | NA | “phenio_nodes” | “behavioral” |
“MP:0002570” | “biolink:PhenotypicFeature” | “alcohol aversion” | “purposeful avoidance of alcohol due to dislike” | “ethanol aversion” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0002570” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074384” | “biolink:PhenotypicFeature” | “abnormally decreased rate of regulation of consumption of an addictive substance” | “Decrease in rate (amount or occurrence per unit of time) of regulation of consumption of an addictive substance.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074384” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079845” | “biolink:PhenotypicFeature” | “abnormal social behavior” | “An anomaly in social behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079845” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080586” | “biolink:PhenotypicFeature” | “abnormal regulation of behavior” | “Abnormal regulation of behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080586” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080602” | “biolink:PhenotypicFeature” | “abnormal vestibulo-ocular reflex” | “Abnormal vestibulo-ocular reflex.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080602” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080601” | “biolink:PhenotypicFeature” | “abnormal physiologic nystagmus” | “Abnormal physiologic nystagmus.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080601” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079839” | “biolink:PhenotypicFeature” | “abnormal physiologic nystagmus” | “An anomaly in physiologic nystagmus.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079839” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079831” | “biolink:PhenotypicFeature” | “abnormal visual pursuit” | “An anomaly in visual pursuit.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079831” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0078579” | “biolink:PhenotypicFeature” | “abnormal visual pursuit” | “Abnormal visual pursuit.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0078579” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079837” | “biolink:PhenotypicFeature” | “abnormal vestibulo-ocular reflex” | “An anomaly in vestibulo-ocular reflex.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079837” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079835” | “biolink:PhenotypicFeature” | “abnormal consumption behavior” | “An anomaly in consumption behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079835” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080584” | “biolink:PhenotypicFeature” | “abnormal suckling behavior” | “Abnormal suckling behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080584” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080551” | “biolink:PhenotypicFeature” | “arrested sucking reflex” | “Arrested sucking reflex.” | c(“failed sucking reflex”, “failure to complete sucking reflex”, “incomplete sucking reflex”, “sucking reflex arrest”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080551” | NA | “phenio_nodes” | “behavioral” |
“MP:0020864” | “biolink:PhenotypicFeature” | “premature suckling reflex loss” | “cessation of the suckling reflex occurs earlier in development compared to controls” | c(“premature rooting reflex loss”, “premature rooting response loss”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0020864” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079843” | “biolink:PhenotypicFeature” | “abnormal suckling behavior” | “An anomaly in suckling behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079843” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080254” | “biolink:PhenotypicFeature” | “decreased alcohol consumption” | “decreased alcohol consumption.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080254” | NA | “phenio_nodes” | “behavioral” |
“MP:0003546” | “biolink:PhenotypicFeature” | “decreased alcohol consumption” | “less than normal consumption of alcohol” | “reduced alcohol consumption” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0003546” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0012075” | “biolink:PhenotypicFeature” | “abnormally increased rate of alcohol consumption” | “Increase in rate (amount or occurrence per unit of time) of alcohol consumption.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0012075” | NA | “phenio_nodes” | “behavioral” |
“MP:0003545” | “biolink:PhenotypicFeature” | “increased alcohol consumption” | “greater than normal consumption of alcohol” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0003545” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0082799” | “biolink:PhenotypicFeature” | “increased alcohol consumption” | “Increased alcohol consumption.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0082799” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074390” | “biolink:PhenotypicFeature” | “abnormally decreased rate of alcohol consumption” | “Decrease in rate (amount or occurrence per unit of time) of alcohol consumption.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074390” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080262” | “biolink:PhenotypicFeature” | “decreased swallowing” | “decreased swallowing.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080262” | NA | “phenio_nodes” | “behavioral” |
“MP:0003158” | “biolink:PhenotypicFeature” | “dysphagia” | “difficulty in swallowing food or liquid” | “impaired swallowing” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0003158” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074380” | “biolink:PhenotypicFeature” | “abnormally decreased rate of swallowing” | “Decrease in rate (amount or occurrence per unit of time) of swallowing.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074380” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0078622” | “biolink:PhenotypicFeature” | “abnormal voluntary movement behavior” | “Abnormal voluntary movement behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0078622” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080595” | “biolink:PhenotypicFeature” | “abnormal consumption behavior” | “Abnormal consumption behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080595” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079833” | “biolink:PhenotypicFeature” | “abnormal voluntary movement behavior” | “An anomaly in voluntary movement behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079833” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079846” | “biolink:PhenotypicFeature” | “abnormal emotional behavior” | “An anomaly in emotional behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079846” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080587” | “biolink:PhenotypicFeature” | “abnormal laughing behavior” | “Abnormal laughing behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080587” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079836” | “biolink:PhenotypicFeature” | “abnormal agitation behavior” | “An anomaly in agitation behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079836” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080592” | “biolink:PhenotypicFeature” | “abnormal agitation behavior” | “Abnormal agitation behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080592” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079829” | “biolink:PhenotypicFeature” | “abnormal aggressive behavior” | “An anomaly in aggressive behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079829” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080597” | “biolink:PhenotypicFeature” | “abnormal physical aggression behavior” | “Abnormal physical aggression behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080597” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0079844” | “biolink:PhenotypicFeature” | “abnormal physical aggression behavior” | “An anomaly in physical aggression behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0079844” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074358” | “biolink:PhenotypicFeature” | “abnormally decreased rate of aggressive behavior” | “Decrease in rate (amount or occurrence per unit of time) of aggressive behavior.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074358” | NA | “phenio_nodes” | “behavioral” |
“MP:0005656” | “biolink:PhenotypicFeature” | “decreased aggression” | “when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action” | “reduced aggression” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0005656” | NA | “phenio_nodes” | “behavioral” |
“MP:0001355” | “biolink:PhenotypicFeature” | “submission towards male mice” | “no domineering, assault posture nor hostile physical action toward male mice” | “lack of aggression towards males” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0001355” | NA | “phenio_nodes” | “behavioral” |
“MP:0003863” | “biolink:PhenotypicFeature” | “decreased aggression towards mice” | “when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice” | “reduced aggression towards mice” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0003863” | NA | “phenio_nodes” | “behavioral” |
“MP:0003862” | “biolink:PhenotypicFeature” | “decreased aggression towards male mice” | “when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice” | “reduced aggression towards males” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MP_0003862” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074382” | “biolink:PhenotypicFeature” | “abnormally decreased rate of aggressive behavior towards mice” | “Decrease in rate (amount or occurrence per unit of time) of aggressive behavior towards mice.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074382” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080270” | “biolink:PhenotypicFeature” | “decreased aggressive behavior towards male mice” | “decreased aggressive behavior towards male mice.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080270” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0074391” | “biolink:PhenotypicFeature” | “abnormally decreased rate of aggressive behavior towards male mice” | “Decrease in rate (amount or occurrence per unit of time) of aggressive behavior towards male mice.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0074391” | NA | “phenio_nodes” | “behavioral” |
“UPHENO:0080267” | “biolink:PhenotypicFeature” | “decreased aggressive behavior towards mice” | “decreased aggressive behavior towards mice.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/UPHENO_0080267” | NA | “phenio_nodes” | “behavioral” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “UPHENO:0079826” | “biolink:subclass_of” | “UPHENO:0049622” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:686554b0-e9bb-4bdf-8db9-829f11f07800” | c(“biolink:Association”, “biolink:Entity”) |
3 | 2 | “UPHENO:0080581” | “biolink:subclass_of” | “UPHENO:0079826” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:20fd2acc-f0fe-4761-a4cb-9dcbe0db41f1” | c(“biolink:Association”, “biolink:Entity”) |
4 | 2 | “UPHENO:0080594” | “biolink:subclass_of” | “UPHENO:0079826” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:dae0e878-4edc-459d-8aba-da6488f1b36f” | c(“biolink:Association”, “biolink:Entity”) |
5 | 4 | “UPHENO:0080281” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:47864e99-e707-46da-8724-72392a882eb3” | c(“biolink:Association”, “biolink:Entity”) |
6 | 4 | “UPHENO:0079834” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:125ddcff-8a62-456a-bf31-e1bfb4a86ddc” | c(“biolink:Association”, “biolink:Entity”) |
7 | 4 | “UPHENO:0074398” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:7c93c7c0-acf0-4cf0-905c-4f93dd21e05d” | c(“biolink:Association”, “biolink:Entity”) |
8 | 4 | “UPHENO:0080591” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:ade9b96c-9514-4387-8d0b-da3ee72aaf75” | c(“biolink:Association”, “biolink:Entity”) |
9 | 4 | “UPHENO:0074396” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:df690bbe-921a-4e12-b655-07c4ec23c1e1” | c(“biolink:Association”, “biolink:Entity”) |
10 | 4 | “UPHENO:0074397” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:9256be48-4334-4c7e-8967-ed918c341ff7” | c(“biolink:Association”, “biolink:Entity”) |
11 | 4 | “UPHENO:0080287” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:bd729502-c4aa-4125-b08e-b4610218c5bb” | c(“biolink:Association”, “biolink:Entity”) |
12 | 4 | “UPHENO:0080286” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:2a25747c-a9dd-43f1-8977-59102cef2476” | c(“biolink:Association”, “biolink:Entity”) |
13 | 4 | “UPHENO:0079840” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:8d27266a-243e-4afc-af5c-3a45d67b12b3” | c(“biolink:Association”, “biolink:Entity”) |
14 | 4 | “UPHENO:0080582” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:2a363e9b-fb1d-4dc7-822d-ad9d70c2f4ea” | c(“biolink:Association”, “biolink:Entity”) |
15 | 4 | “UPHENO:0081794” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:e5079a41-ee9a-4b82-9ae0-2284b8acd7c0” | c(“biolink:Association”, “biolink:Entity”) |
16 | 15 | “MP:0002805” | “biolink:subclass_of” | “UPHENO:0081794” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:51ab1aa1-1f07-4779-8f78-ed13e4720988” | c(“biolink:Association”, “biolink:Entity”) |
17 | 16 | “MP:0020968” | “biolink:subclass_of” | “MP:0002805” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mp” | “phenio_edges” | “urn:uuid:008eb0c7-03a0-4070-a792-cb4637e76123” | c(“biolink:Association”, “biolink:Entity”) |
18 | 16 | “MP:0020969” | “biolink:subclass_of” | “MP:0002805” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mp” | “phenio_edges” | “urn:uuid:e44ebcb0-61d0-44ba-abe4-2fb8f99b46ce” | c(“biolink:Association”, “biolink:Entity”) |
19 | 15 | “UPHENO:0082947” | “biolink:subclass_of” | “UPHENO:0081794” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:64567a66-505e-4834-88a5-95f5649e0eee” | c(“biolink:Association”, “biolink:Entity”) |
17 | 19 | “MP:0020968” | “biolink:subclass_of” | “UPHENO:0082947” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:8b2b47e2-8e83-48be-9ed2-882f7ad81b65” | c(“biolink:Association”, “biolink:Entity”) |
20 | 15 | “UPHENO:0082800” | “biolink:subclass_of” | “UPHENO:0081794” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:46ce7763-c00d-4bac-914a-f3a290bc5b90” | c(“biolink:Association”, “biolink:Entity”) |
17 | 20 | “MP:0020968” | “biolink:subclass_of” | “UPHENO:0082800” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:9781f172-07ca-4f0f-b348-4ab3d35592eb” | c(“biolink:Association”, “biolink:Entity”) |
21 | 15 | “UPHENO:0080550” | “biolink:subclass_of” | “UPHENO:0081794” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:e348b71a-f98b-4ecf-aa93-332d64044a18” | c(“biolink:Association”, “biolink:Entity”) |
18 | 21 | “MP:0020969” | “biolink:subclass_of” | “UPHENO:0080550” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:f09364a2-7ceb-4814-92cd-0176885d2e18” | c(“biolink:Association”, “biolink:Entity”) |
22 | 15 | “UPHENO:0080256” | “biolink:subclass_of” | “UPHENO:0081794” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:d4e8f0ed-0214-4904-a799-6d8edaa283ea” | c(“biolink:Association”, “biolink:Entity”) |
18 | 22 | “MP:0020969” | “biolink:subclass_of” | “UPHENO:0080256” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:ad5d00b0-3b18-498a-a08e-54c8c35bfa05” | c(“biolink:Association”, “biolink:Entity”) |
23 | 4 | “UPHENO:0080276” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:c972067f-0edd-4281-8753-fc2b1d052190” | c(“biolink:Association”, “biolink:Entity”) |
24 | 23 | “MP:0004000” | “biolink:subclass_of” | “UPHENO:0080276” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:a7c52d70-ec13-419c-83c5-118629059af0” | c(“biolink:Association”, “biolink:Entity”) |
25 | 4 | “UPHENO:0080579” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:f0bdb34e-a2bc-4653-b7c4-989fe94ed450” | c(“biolink:Association”, “biolink:Entity”) |
16 | 25 | “MP:0002805” | “biolink:subclass_of” | “UPHENO:0080579” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:5a7687e4-9ccb-4eba-bbf0-f2328c665cf1” | c(“biolink:Association”, “biolink:Entity”) |
22 | 25 | “UPHENO:0080256” | “biolink:subclass_of” | “UPHENO:0080579” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:dde39d6e-c3cb-413c-ad51-12924a0fda4d” | c(“biolink:Association”, “biolink:Entity”) |
19 | 25 | “UPHENO:0082947” | “biolink:subclass_of” | “UPHENO:0080579” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:18f2c3d7-9386-424d-8353-ed3b80c4f5b1” | c(“biolink:Association”, “biolink:Entity”) |
21 | 25 | “UPHENO:0080550” | “biolink:subclass_of” | “UPHENO:0080579” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:5c1451a0-2802-404c-8004-77c542f55467” | c(“biolink:Association”, “biolink:Entity”) |
20 | 25 | “UPHENO:0082800” | “biolink:subclass_of” | “UPHENO:0080579” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:9f0157ec-d579-4d9c-886e-0dc0a4d2f3a4” | c(“biolink:Association”, “biolink:Entity”) |
26 | 4 | “UPHENO:0074368” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:328b809d-863e-4c09-adcb-dc812f749006” | c(“biolink:Association”, “biolink:Entity”) |
24 | 26 | “MP:0004000” | “biolink:subclass_of” | “UPHENO:0074368” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:3a01a99f-b989-4e45-8f55-26f596e662e3” | c(“biolink:Association”, “biolink:Entity”) |
27 | 4 | “UPHENO:0012055” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:4beff61a-50c2-4e68-97bf-3707a8306945” | c(“biolink:Association”, “biolink:Entity”) |
28 | 27 | “MP:0003999” | “biolink:subclass_of” | “UPHENO:0012055” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:7b8cc3aa-54a2-4d78-b51f-2a9a856681a2” | c(“biolink:Association”, “biolink:Entity”) |
29 | 4 | “UPHENO:0081793” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:f5324a78-c4e8-4726-a5d9-dd4b9b4cb4ce” | c(“biolink:Association”, “biolink:Entity”) |
30 | 29 | “MP:0002806” | “biolink:subclass_of” | “UPHENO:0081793” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:d0a5bf0f-d2c6-4b6b-b903-8fd3f4f38c59” | c(“biolink:Association”, “biolink:Entity”) |
31 | 4 | “UPHENO:0082822” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:66844e1e-be8e-4a39-96a6-ac1dce076dda” | c(“biolink:Association”, “biolink:Entity”) |
28 | 31 | “MP:0003999” | “biolink:subclass_of” | “UPHENO:0082822” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:0e8e1e62-5520-40fb-8c8a-ad2a030da81f” | c(“biolink:Association”, “biolink:Entity”) |
32 | 4 | “UPHENO:0080580” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:fa2fdfc6-34d0-440c-ace8-015822abab72” | c(“biolink:Association”, “biolink:Entity”) |
30 | 32 | “MP:0002806” | “biolink:subclass_of” | “UPHENO:0080580” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:482c9685-1cf0-45ff-a347-7fff83d149be” | c(“biolink:Association”, “biolink:Entity”) |
33 | 4 | “UPHENO:0012048” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:1a5d1574-b4da-40b6-a65a-4a9caba4528a” | c(“biolink:Association”, “biolink:Entity”) |
34 | 33 | “MP:0006299” | “biolink:subclass_of” | “UPHENO:0012048” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:127e81db-f386-4b1f-8a40-ff26a5196f20” | c(“biolink:Association”, “biolink:Entity”) |
35 | 4 | “UPHENO:0082820” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:e1250cc6-a894-44ab-a6fe-6f85a2fbbcaf” | c(“biolink:Association”, “biolink:Entity”) |
34 | 35 | “MP:0006299” | “biolink:subclass_of” | “UPHENO:0082820” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:00c74b52-6134-4e50-ad92-16fa9a98a381” | c(“biolink:Association”, “biolink:Entity”) |
36 | 4 | “UPHENO:0012064” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:e681a479-3a26-457b-8e71-9e5e16aaf346” | c(“biolink:Association”, “biolink:Entity”) |
37 | 36 | “MP:0009456” | “biolink:subclass_of” | “UPHENO:0012064” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:d7148a34-194c-4b82-b31d-6e6ec45bfb08” | c(“biolink:Association”, “biolink:Entity”) |
38 | 4 | “UPHENO:0080265” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:f137972c-ab87-4518-b6df-c01de35f4a95” | c(“biolink:Association”, “biolink:Entity”) |
39 | 38 | “MP:0009455” | “biolink:subclass_of” | “UPHENO:0080265” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:8a50e960-061a-4df2-ae3f-1a129acaaf45” | c(“biolink:Association”, “biolink:Entity”) |
40 | 4 | “UPHENO:0074378” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:c15a9fa0-09f0-49c9-ace4-75503854e6ec” | c(“biolink:Association”, “biolink:Entity”) |
39 | 40 | “MP:0009455” | “biolink:subclass_of” | “UPHENO:0074378” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:e2cfa074-4d36-4665-bf95-fdf9f6563565” | c(“biolink:Association”, “biolink:Entity”) |
41 | 4 | “UPHENO:0082825” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:d6bfe2f3-e28b-4e2b-b106-803045d926bb” | c(“biolink:Association”, “biolink:Entity”) |
42 | 41 | “MP:0009453” | “biolink:subclass_of” | “UPHENO:0082825” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:dddf0d6e-060c-4989-b33c-259838b6d3b4” | c(“biolink:Association”, “biolink:Entity”) |
43 | 4 | “UPHENO:0012063” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:3d352023-316e-42fd-b8b0-77d64b165b8b” | c(“biolink:Association”, “biolink:Entity”) |
42 | 43 | “MP:0009453” | “biolink:subclass_of” | “UPHENO:0012063” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:0b4b17a2-1b7b-4982-902d-14459b608a0d” | c(“biolink:Association”, “biolink:Entity”) |
44 | 4 | “UPHENO:0080278” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:0235837c-1ade-48e8-a5e4-44254aa7e822” | c(“biolink:Association”, “biolink:Entity”) |
45 | 44 | “MP:0009712” | “biolink:subclass_of” | “UPHENO:0080278” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:494717b1-c94c-4583-a504-bdd7fe1010d5” | c(“biolink:Association”, “biolink:Entity”) |
46 | 4 | “UPHENO:0080279” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:a6e31ba9-a10d-4118-bf9d-23bc8b8f3f57” | c(“biolink:Association”, “biolink:Entity”) |
47 | 46 | “MP:0009454” | “biolink:subclass_of” | “UPHENO:0080279” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:4cd93d7d-7720-4075-aa03-ae9b0938a0ae” | c(“biolink:Association”, “biolink:Entity”) |
48 | 4 | “UPHENO:0074376” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:37072ccc-ccd6-4cce-ade3-bbf7bf1b07ec” | c(“biolink:Association”, “biolink:Entity”) |
47 | 48 | “MP:0009454” | “biolink:subclass_of” | “UPHENO:0074376” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:1a720b8c-29c5-4546-9677-dd9ad356c6c1” | c(“biolink:Association”, “biolink:Entity”) |
49 | 4 | “UPHENO:0074375” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:92d0558c-c428-4a54-9c23-a95ed8236bbb” | c(“biolink:Association”, “biolink:Entity”) |
45 | 49 | “MP:0009712” | “biolink:subclass_of” | “UPHENO:0074375” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:5bbca83b-32b3-4b62-bb5e-94e2e9162f8b” | c(“biolink:Association”, “biolink:Entity”) |
50 | 4 | “UPHENO:0012062” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:a6afacc2-965f-4c43-a518-49f703798c66” | c(“biolink:Association”, “biolink:Entity”) |
51 | 50 | “MP:0009713” | “biolink:subclass_of” | “UPHENO:0012062” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:fb049289-4cc4-4dfe-bdb6-1585274e52cf” | c(“biolink:Association”, “biolink:Entity”) |
52 | 4 | “UPHENO:0082824” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:2a197370-6529-46ec-8abe-3dcdd8cd703a” | c(“biolink:Association”, “biolink:Entity”) |
51 | 52 | “MP:0009713” | “biolink:subclass_of” | “UPHENO:0082824” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:1e15a091-255f-46ca-a566-6ac4540abbee” | c(“biolink:Association”, “biolink:Entity”) |
53 | 4 | “UPHENO:0082807” | “biolink:subclass_of” | “UPHENO:0080594” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:286c918e-8566-4e0f-9036-15d8c0d1c72f” | c(“biolink:Association”, “biolink:Entity”) |
37 | 53 | “MP:0009456” | “biolink:subclass_of” | “UPHENO:0082807” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:13cee51e-c288-428d-826a-4bde577bc719” | c(“biolink:Association”, “biolink:Entity”) |
54 | 2 | “UPHENO:0079828” | “biolink:subclass_of” | “UPHENO:0079826” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:99288dc4-cde8-4465-bc5e-c5b714e9a873” | c(“biolink:Association”, “biolink:Entity”) |
55 | 2 | “UPHENO:0079830” | “biolink:subclass_of” | “UPHENO:0079826” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:84009b6c-1c09-4761-8ae8-8df222b217a9” | c(“biolink:Association”, “biolink:Entity”) |
56 | 55 | “UPHENO:0080250” | “biolink:subclass_of” | “UPHENO:0079830” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:c9315987-7a27-4490-a73c-012f3c09e28c” | c(“biolink:Association”, “biolink:Entity”) |
57 | 56 | “MP:0002554” | “biolink:subclass_of” | “UPHENO:0080250” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:38adc47d-f4e8-43e8-bd16-07b1a68c5750” | c(“biolink:Association”, “biolink:Entity”) |
58 | 57 | “MP:0002570” | “biolink:subclass_of” | “MP:0002554” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mp” | “phenio_edges” | “urn:uuid:d163be69-38e0-469b-9163-1c0e9727a7ca” | c(“biolink:Association”, “biolink:Entity”) |
59 | 55 | “UPHENO:0074384” | “biolink:subclass_of” | “UPHENO:0079830” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:d7fe540d-d7dd-4509-a60f-7448dc2621c1” | c(“biolink:Association”, “biolink:Entity”) |
57 | 59 | “MP:0002554” | “biolink:subclass_of” | “UPHENO:0074384” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:71fc92c9-5e55-4228-8fb6-159773ba2df9” | c(“biolink:Association”, “biolink:Entity”) |
60 | 2 | “UPHENO:0079845” | “biolink:subclass_of” | “UPHENO:0079826” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:631e568d-0ab7-451e-9277-76eb253f5beb” | c(“biolink:Association”, “biolink:Entity”) |
12 | 60 | “UPHENO:0080286” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:0e18a337-3ac0-4d6c-bec7-105b74d0d790” | c(“biolink:Association”, “biolink:Entity”) |
10 | 60 | “UPHENO:0074397” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:fb5b8b66-2093-4d05-b91d-5f269bbae1de” | c(“biolink:Association”, “biolink:Entity”) |
7 | 60 | “UPHENO:0074398” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:9f5f9995-a604-4d53-a0f9-c62b41c18633” | c(“biolink:Association”, “biolink:Entity”) |
6 | 60 | “UPHENO:0079834” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:1413794c-6162-4244-8ab0-0ce3ce7f1454” | c(“biolink:Association”, “biolink:Entity”) |
11 | 60 | “UPHENO:0080287” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:64adde97-4ecb-43a3-8a90-3ec7be927adc” | c(“biolink:Association”, “biolink:Entity”) |
5 | 60 | “UPHENO:0080281” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:abc408ef-7b2f-4a15-be69-e18dcd599899” | c(“biolink:Association”, “biolink:Entity”) |
8 | 60 | “UPHENO:0080591” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:43da3388-313b-4b9e-b8b1-8006d1bc0f73” | c(“biolink:Association”, “biolink:Entity”) |
9 | 60 | “UPHENO:0074396” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:9fd2067e-1ad7-47d9-8def-96bb9fcf8558” | c(“biolink:Association”, “biolink:Entity”) |
13 | 60 | “UPHENO:0079840” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:5ba1194a-3c8b-4a46-b716-4cf78c0698cc” | c(“biolink:Association”, “biolink:Entity”) |
14 | 60 | “UPHENO:0080582” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:38086420-671b-432c-89d9-66141585803b” | c(“biolink:Association”, “biolink:Entity”) |
26 | 60 | “UPHENO:0074368” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:5832f09e-32b9-42f8-b60e-b9795ecae3d0” | c(“biolink:Association”, “biolink:Entity”) |
25 | 60 | “UPHENO:0080579” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:ddde8ced-0003-4c01-8d4e-e47f79259b11” | c(“biolink:Association”, “biolink:Entity”) |
15 | 60 | “UPHENO:0081794” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:f94186fe-5fad-468a-985d-b6ef04fed919” | c(“biolink:Association”, “biolink:Entity”) |
29 | 60 | “UPHENO:0081793” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:c055a3b9-99e7-4f43-832f-a31e99fd02c0” | c(“biolink:Association”, “biolink:Entity”) |
32 | 60 | “UPHENO:0080580” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:3ce3fbee-45d4-4bd5-a4c8-926cbf1087fc” | c(“biolink:Association”, “biolink:Entity”) |
31 | 60 | “UPHENO:0082822” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:a2b6ae35-ec2b-4495-b93e-5a0fd546e05b” | c(“biolink:Association”, “biolink:Entity”) |
27 | 60 | “UPHENO:0012055” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:37416c59-1f0b-46e1-8173-88c7e3f0578d” | c(“biolink:Association”, “biolink:Entity”) |
23 | 60 | “UPHENO:0080276” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:353b8d74-1d9b-4a80-9aba-2aca0bad2ee0” | c(“biolink:Association”, “biolink:Entity”) |
33 | 60 | “UPHENO:0012048” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:c00020d7-8848-4797-984c-1e9a7f0606c6” | c(“biolink:Association”, “biolink:Entity”) |
35 | 60 | “UPHENO:0082820” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:db16d5b8-1730-4450-9aff-f62e6ca444f8” | c(“biolink:Association”, “biolink:Entity”) |
36 | 60 | “UPHENO:0012064” | “biolink:subclass_of” | “UPHENO:0079845” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:upheno” | “phenio_edges” | “urn:uuid:5bd210ab-a612-48d3-8d3a-6e01270ce595” | c(“biolink:Association”, “biolink:Entity”) |
# what's in atypical mental functions not atypical behaviors
mental_only <- atypical_mental_functions |>
activate(nodes) |>
filter(!id %in% nodes(atypical_behaviors)$id) |>
mutate(type = "mental")
mental_only
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) | type |
---|---|---|---|---|---|---|---|---|---|
“HP:0011446” | “biolink:PhenotypicFeature” | “Abnormality of mental function” | “Cognitive, psychiatric, or memory anomaly.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011446” | “UMLS:C4023352” | “phenio_nodes” | “mental” |
“HP:0002167” | “biolink:PhenotypicFeature” | “Abnormality of speech or vocalization” | “Abnormalities in the sound of a person’s speech or vocalization not necessarily associated with a known physical cause or due to stuttering or stammering.” | c(“Abnormal speech”, “Abnormal vocalisation”, “Abnormal vocalization”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002167” | c(“MSH:D013064”, “UMLS:C0037822”) | “phenio_nodes” | “mental” |
“HP:0002425” | “biolink:PhenotypicFeature” | “Anarthria” | “A defect in the motor ability that enables speech.” | “Loss of articulate speech” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002425” | c(“SNOMEDCT_US:48257004”, “UMLS:C0234517”) | “phenio_nodes” | “mental” |
“HP:0002546” | “biolink:PhenotypicFeature” | “Incomprehensible speech” | NA | “Incomprehensible speech” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002546” | “UMLS:C1838027” | “phenio_nodes” | “mental” |
“HP:0002371” | “biolink:PhenotypicFeature” | “Loss of speech” | NA | “Loss of speech” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002371” | “UMLS:C0542223” | “phenio_nodes” | “mental” |
“HP:0001260” | “biolink:PhenotypicFeature” | “Dysarthria” | “Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.” | c(“Difficulty articulating speech”, “Dysarthric speech”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001260” | c(“MSH:D004401”, “SNOMEDCT_US:8011004”, “UMLS:C0013362”) | “phenio_nodes” | “mental” |
“HP:0008376” | “biolink:PhenotypicFeature” | “Nasal, dysarthic speech” | NA | “Breathy speech” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008376” | “UMLS:C1834664” | “phenio_nodes” | “mental” |
“HP:0002464” | “biolink:PhenotypicFeature” | “Spastic dysarthria” | “A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.” | “Rigid dysarthria” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002464” | c(“MSH:D004401”, “SNOMEDCT_US:229684006”, “UMLS:C0454596”) | “phenio_nodes” | “mental” |
“HP:0007024” | “biolink:PhenotypicFeature” | “Pseudobulbar paralysis” | “Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.” | c(“Pseudobulbar palsy”, “Pseudobulbar syndrome”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007024” | c(“MSH:D020828”, “SNOMEDCT_US:7379000”, “UMLS:C0033790”) | “phenio_nodes” | “mental” |
“HP:0002168” | “biolink:PhenotypicFeature” | “Scanning speech” | “An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.” | “Explosive speech” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002168” | c(“SNOMEDCT_US:102935005”, “SNOMEDCT_US:77420001”, “UMLS:C0278184”, “UMLS:C0522198”) | “phenio_nodes” | “mental” |
“HP:0002465” | “biolink:PhenotypicFeature” | “Poor speech” | NA | c(“Difficulty speaking”, “Poor speech”, “Problems speaking”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002465” | c(“UMLS:C1848207”, “UMLS:C4280574”) | “phenio_nodes” | “mental” |
“HP:0025268” | “biolink:PhenotypicFeature” | “Stuttering” | “Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.” | c(“Stammering”, “Stuttering”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025268” | NA | “phenio_nodes” | “mental” |
“HP:0002381” | “biolink:PhenotypicFeature” | “Aphasia” | “An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.” | c(“Difficulty finding words”, “Losing words”, “Loss of words”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002381” | c(“MSH:D001037”, “SNOMEDCT_US:87486003”, “UMLS:C0003537”) | “phenio_nodes” | “mental” |
“HP:0002427” | “biolink:PhenotypicFeature” | “Expressive aphasia” | “Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.” | c(“Broca’s aphasia”, “Loss of expressive speech”, “Motor aphasia”, “Non-fluent aphasia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002427” | c(“MSH:D001039”, “SNOMEDCT_US:229654003”, “SNOMEDCT_US:229665008”, “SNOMEDCT_US:328681008”, “UMLS:C0003550”, “UMLS:C0917814”) | “phenio_nodes” | “mental” |
“HP:0033848” | “biolink:PhenotypicFeature” | “Receptive aphasia” | “A type of aphasia that is characterized by impaired language comprehension.” | c(“Fluent aphasia”, “Wernicke aphasia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033848” | NA | “phenio_nodes” | “mental” |
“HP:0033849” | “biolink:PhenotypicFeature” | “Bilingual aphasia” | “The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033849” | NA | “phenio_nodes” | “mental” |
“HP:0030784” | “biolink:PhenotypicFeature” | “Anomic aphasia” | “An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.” | c(“Amnesic aphasia”, “Amnestic aphasia”, “Anomia”, “Nominal aphasia”, “Word-finding difficulty”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0030784” | c(“MSH:D000849”, “SNOMEDCT_US:10325006”, “UMLS:C0003113”) | “phenio_nodes” | “mental” |
“HP:0010526” | “biolink:PhenotypicFeature” | “Dysgraphia” | “A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010526” | c(“MSH:D000381”, “SNOMEDCT_US:88278002”, “UMLS:C0234144”) | “phenio_nodes” | “mental” |
“HP:0010523” | “biolink:PhenotypicFeature” | “Alexia” | “An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.” | c(“Text blindness”, “Word blindness”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010523” | c(“MSH:D004410”, “SNOMEDCT_US:9236007”, “UMLS:C0002018”) | “phenio_nodes” | “mental” |
“HP:0031434” | “biolink:PhenotypicFeature” | “Abnormal prosody” | “Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031434” | NA | “phenio_nodes” | “mental” |
“HP:5200011” | “biolink:PhenotypicFeature” | “Abnormal speech rate” | “Speech that is abnormally fast or slow” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200011” | NA | “phenio_nodes” | “mental” |
“HP:0031937” | “biolink:PhenotypicFeature” | “Tachylalia” | “Fast speech.” | “Tachylogia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031937” | NA | “phenio_nodes” | “mental” |
“HP:5200038” | “biolink:PhenotypicFeature” | “Bradylalia” | “Slow speech.” | “Bradylogia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200038” | NA | “phenio_nodes” | “mental” |
“HP:5200010” | “biolink:PhenotypicFeature” | “Abnormal Intonation” | “Abnormal rise and fall of the voice in speech and vocalization.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200010” | NA | “phenio_nodes” | “mental” |
“HP:0031435” | “biolink:PhenotypicFeature” | “Monotonic speech” | “A speech pattern characterized by an abnormal lack of tone in the voice.” | “Flat speech” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031435” | NA | “phenio_nodes” | “mental” |
“HP:5200005” | “biolink:PhenotypicFeature” | “Abnormal pitch” | “Abnormally high or low-pitched vocalization or speech.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200005” | NA | “phenio_nodes” | “mental” |
“HP:0001620” | “biolink:PhenotypicFeature” | “High pitched voice” | “An abnormal increase in the pitch (frequency) of the voice.” | c(“Abnormally high-pitched voice”, “High pitched voice”, “High-pitched voice”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001620” | c(“SNOMEDCT_US:51406002”, “UMLS:C0241703”) | “phenio_nodes” | “mental” |
“HP:0010300” | “biolink:PhenotypicFeature” | “Abnormally low-pitched voice” | “An abnormal decrease in the pitch of the voice.” | c(“Low pitched voice”, “Low-pitched voice”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010300” | “UMLS:C4023915” | “phenio_nodes” | “mental” |
“HP:0031436” | “biolink:PhenotypicFeature” | “Singsong Intonation” | “A speech pattern characterized by abnormal fluctuations in the pitch of the voice.” | c(“Melodic speech”, “Sing song intonation”, “Sing-song intonation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031436” | NA | “phenio_nodes” | “mental” |
“HP:5200012” | “biolink:PhenotypicFeature” | “Abnormal speech rhythm” | “Speech with abnormal rhythm or pattern” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200012” | NA | “phenio_nodes” | “mental” |
“HP:0002526” | “biolink:PhenotypicFeature” | “Deficit in nonword repetition” | “Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002526” | “UMLS:C4025702” | “phenio_nodes” | “mental” |
“HP:5200043” | “biolink:PhenotypicFeature” | “Abnormal speech volume” | “Speech that is abnormally loud or quiet for the social context in which it is spoken.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200043” | NA | “phenio_nodes” | “mental” |
“HP:5200040” | “biolink:PhenotypicFeature” | “Excessively quiet voice” | “Speech which is abnormally quiet or inappropriate whispering that is not due to a structural or muscular abnormality.” | c(“Excessively soft voice”, “Speech to soft for context”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200040” | NA | “phenio_nodes” | “mental” |
“HP:5200039” | “biolink:PhenotypicFeature” | “Excessively loud speech” | “Speech which is abnormally loud that is not due to a structural or muscular abnormality.” | “Speech too loud for context” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200039” | NA | “phenio_nodes” | “mental” |
“HP:0031908” | “biolink:PhenotypicFeature” | “Micrographia” | “Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031908” | NA | “phenio_nodes” | “mental” |
“HP:0002186” | “biolink:PhenotypicFeature” | “Apraxia” | “A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.” | “Apraxias” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002186” | c(“MSH:D001072”, “SNOMEDCT_US:68345001”, “SNOMEDCT_US:6950007”, “UMLS:C0003635”) | “phenio_nodes” | “mental” |
“HP:0000658” | “biolink:PhenotypicFeature” | “Eyelid apraxia” | NA | “Difficulty opening the eyelids” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000658” | c(“SNOMEDCT_US:423142006”, “UMLS:C1142448”) | “phenio_nodes” | “mental” |
“HP:0032588” | “biolink:PhenotypicFeature” | “Hand apraxia” | “Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.” | “Lack of purposeful hand use” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032588” | NA | “phenio_nodes” | “mental” |
“HP:0030217” | “biolink:PhenotypicFeature” | “Limb apraxia” | “Difficulty in performing the correct execution of limbs movements in absence of motor impairment.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0030217” | “UMLS:C4022574” | “phenio_nodes” | “mental” |
“HP:0007301” | “biolink:PhenotypicFeature” | “Oromotor apraxia” | “Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.” | “Oral-motor apraxia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007301” | “UMLS:C4021845” | “phenio_nodes” | “mental” |
“HP:0011098” | “biolink:PhenotypicFeature” | “Speech apraxia” | “A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.” | c(“Apraxia of speech”, “Speech dyspraxia”, “Verbal dyspraxia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011098” | c(“MSH:D001072”, “SNOMEDCT_US:361276003”, “SNOMEDCT_US:361277007”, “SNOMEDCT_US:74227009”, “UMLS:C0264611”, “UMLS:C0349391”) | “phenio_nodes” | “mental” |
“HP:0100543” | “biolink:PhenotypicFeature” | “Cognitive impairment” | “Abnormal cognition with deficits in thinking, reasoning, or remembering.” | c(“Abnormality of cognition”, “Cognitive abnormality”, “Cognitive defects”, “Cognitive deficits”, “Cognitive impairment”, “Intellectual impairment”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0100543” | c(“MSH:D060825”, “SNOMEDCT_US:386806002”, “UMLS:C0338656”, “UMLS:C0683322”) | “phenio_nodes” | “mental” |
“HP:0002354” | “biolink:PhenotypicFeature” | “Memory impairment” | “An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.” | c(“Forgetfulness”, “Memory impairment”, “Memory loss”, “Memory problems”, “Poor memory”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002354” | c(“MSH:D008569”, “SNOMEDCT_US:386807006”, “SNOMEDCT_US:55533009”, “UMLS:C0233794”, “UMLS:C0542476”, “UMLS:C0751295”) | “phenio_nodes” | “mental” |
“HP:0007017” | “biolink:PhenotypicFeature” | “Progressive forgetfulness” | NA | “Forgetfullness” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007017” | “UMLS:C3277688” | “phenio_nodes” | “mental” |
“HP:0033687” | “biolink:PhenotypicFeature” | “Short term memory impairment” | “A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).” | “Short term memory loss” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033687” | NA | “phenio_nodes” | “mental” |
“HP:0002549” | “biolink:PhenotypicFeature” | “Deficit in phonologic short-term memory” | “Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory” | c(“Deficit in non-word repetition”, “Impaired non-word repetition”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002549” | “UMLS:C1847609” | “phenio_nodes” | “mental” |
“HP:0033688” | “biolink:PhenotypicFeature” | “Long term memory impairment” | “A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).” | “Long term memory loss” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033688” | NA | “phenio_nodes” | “mental” |
“HP:0033689” | “biolink:PhenotypicFeature” | “Anterograde memory impairment” | “The impaired ability to establish new long-term memories.” | “Anterograde amnesia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033689” | NA | “phenio_nodes” | “mental” |
“HP:0033690” | “biolink:PhenotypicFeature” | “Retrograde memory impairment” | “Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.” | “Retrograde amnesia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033690” | NA | “phenio_nodes” | “mental” |
“HP:0033692” | “biolink:PhenotypicFeature” | “Declarative memory loss” | “Impaired ability to remember facts and events.” | “Impaired declarative memory” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033692” | NA | “phenio_nodes” | “mental” |
“HP:0033691” | “biolink:PhenotypicFeature” | “Procedural memory loss” | “A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.” | c(“Impaired procedural memory”, “Procedural memory deficit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033691” | NA | “phenio_nodes” | “mental” |
“HP:0010534” | “biolink:PhenotypicFeature” | “Transient global amnesia” | “A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010534” | c(“MSH:D020236”, “SNOMEDCT_US:230736007”, “UMLS:C0338591”) | “phenio_nodes” | “mental” |
“HP:0001249” | “biolink:PhenotypicFeature” | “Intellectual disability” | “Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.” | c(“Dull intelligence”, “Intellectual disability”, “Low intelligence”, “Mental deficiency”, “Mental retardation”, “Mental retardation, nonspecific”, “Mental-retardation”, “Nonprogressive intellectual disability”, “Nonprogressive mental retardation”, “Poor school performance”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001249” | c(“MSH:D008607”, “SNOMEDCT_US:228156007”, “SNOMEDCT_US:247578003”, “SNOMEDCT_US:91138005”, “UMLS:C0025362”, “UMLS:C0423903”, “UMLS:C0917816”, “UMLS:C1843367”, “UMLS:C3714756”, “UMLS:C4020876”) | “phenio_nodes” | “mental” |
“HP:0001256” | “biolink:PhenotypicFeature” | “Intellectual disability, mild” | “Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.” | c(“Intellectual disability, mild”, “Mental retardation, borderline-mild”, “Mental retardation, mild”, “Mild and nonprogressive mental retardation”, “Mild mental retardation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001256” | c(“SNOMEDCT_US:86765009”, “UMLS:C0026106”) | “phenio_nodes” | “mental” |
“HP:0002187” | “biolink:PhenotypicFeature” | “Intellectual disability, profound” | “Profound mental retardation is defined as an intelligence quotient (IQ) below 20.” | c(“IQ less than 20”, “Mental retardation, profound”, “Profound mental retardation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002187” | c(“MSH:D008607”, “SNOMEDCT_US:31216003”, “UMLS:C0020796”, “UMLS:C3161330”) | “phenio_nodes” | “mental” |
“HP:0002342” | “biolink:PhenotypicFeature” | “Intellectual disability, moderate” | “Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.” | c(“IQ between 34 and 49”, “Mental retardation, moderate”, “Moderate mental deficiency”, “Moderate mental retardation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002342” | c(“SNOMEDCT_US:61152003”, “UMLS:C0026351”) | “phenio_nodes” | “mental” |
“HP:0006889” | “biolink:PhenotypicFeature” | “Intellectual disability, borderline” | “Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.” | c(“Intellectual disability, borderline”, “Mental retardation, borderline”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006889” | c(“SNOMEDCT_US:77287004”, “UMLS:C0006009”) | “phenio_nodes” | “mental” |
“HP:0006887” | “biolink:PhenotypicFeature” | “Intellectual disability, progressive” | “The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.” | c(“Intellectual disability, progressive”, “Mental retardation, progressive”, “Progressive mental retardation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006887” | “UMLS:C1846149” | “phenio_nodes” | “mental” |
“HP:0010864” | “biolink:PhenotypicFeature” | “Intellectual disability, severe” | “Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.” | c(“Early and severe mental retardation”, “Intellectual disability, severe”, “Mental retardation, severe”, “Severe mental retardation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010864” | c(“SNOMEDCT_US:40700009”, “UMLS:C0036857”) | “phenio_nodes” | “mental” |
“HP:0031843” | “biolink:PhenotypicFeature” | “Bradyphrenia” | “Abnormal slowness of thought processes.” | c(“Mental slowness”, “Slowed thinking”, “Slowed thoughts”, “Slowness of thought”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031843” | NA | “phenio_nodes” | “mental” |
“HP:0033630” | “biolink:PhenotypicFeature” | “Brain fog” | “"""Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is """"cloudy"""". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously."""” | c(“Mental clouding”, “Mental fatigue”, “Mental fog”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033630” | NA | “phenio_nodes” | “mental” |
“HP:0033844” | “biolink:PhenotypicFeature” | “Tachyphrenia” | “The sensation that thoughts are moving too quickly.” | “Racing thoughts” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033844” | NA | “phenio_nodes” | “mental” |
“HP:0001268” | “biolink:PhenotypicFeature” | “Mental deterioration” | “Loss of previously present mental abilities, generally in adults.” | c(“Cognitive decline”, “Cognitive decline, progressive”, “Intellectual deterioration”, “Mental deterioration”, “Progressive cognitive decline”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001268” | c(“MSH:D060825”, “UMLS:C0234985”) | “phenio_nodes” | “mental” |
“HP:0007086” | “biolink:PhenotypicFeature” | “Social and occupational deterioration” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007086” | “UMLS:C1866986” | “phenio_nodes” | “mental” |
“HP:0000726” | “biolink:PhenotypicFeature” | “Dementia” | “A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.” | c(“Dementia”, “Dementia, progressive”, “Progressive dementia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000726” | c(“MSH:D003704”, “SNOMEDCT_US:52448006”, “UMLS:C0497327”) | “phenio_nodes” | “mental” |
“HP:0002439” | “biolink:PhenotypicFeature” | “Frontolimbic dementia” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002439” | “UMLS:C1836151” | “phenio_nodes” | “mental” |
“HP:0000727” | “biolink:PhenotypicFeature” | “Frontal lobe dementia” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000727” | c(“SNOMEDCT_US:278857002”, “UMLS:C0338455”) | “phenio_nodes” | “mental” |
“HP:0007123” | “biolink:PhenotypicFeature” | “Subcortical dementia” | “A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007123” | “UMLS:C4024935” | “phenio_nodes” | “mental” |
“HP:0002145” | “biolink:PhenotypicFeature” | “Frontotemporal dementia” | “A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002145” | c(“MSH:D057180”, “SNOMEDCT_US:230270009”, “UMLS:C0338451”) | “phenio_nodes” | “mental” |
“HP:0030219” | “biolink:PhenotypicFeature” | “Semantic dementia” | “A progressive loss of the ability to remember the meaning of words, faces and objects.” | “Trouble remembering words” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0030219” | c(“MSH:D057180”, “SNOMEDCT_US:230288001”, “UMLS:C0338462”) | “phenio_nodes” | “mental” |
“HP:0002344” | “biolink:PhenotypicFeature” | “Progressive neurologic deterioration” | NA | c(“Neurologic deterioration”, “Neurologic deterioration, progressive”, “Progressive mental deterioration”, “Progressive neurodegeneration”, “Worsening neurological symptoms”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002344” | “UMLS:C1854838” | “phenio_nodes” | “mental” |
“HP:0007307” | “biolink:PhenotypicFeature” | “Rapid neurologic deterioration” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007307” | “UMLS:C4024908” | “phenio_nodes” | “mental” |
“HP:0007064” | “biolink:PhenotypicFeature” | “Progressive language deterioration” | “Progressive loss of previously present language abilities.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007064” | “UMLS:C1843793” | “phenio_nodes” | “mental” |
“HP:0007272” | “biolink:PhenotypicFeature” | “Progressive psychomotor deterioration” | NA | “Progressive mental and motor deterioration” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007272” | “UMLS:C1856565” | “phenio_nodes” | “mental” |
“HP:0002333” | “biolink:PhenotypicFeature” | “Motor deterioration” | “Loss of previously present motor (i.e., movement) abilities.” | “Progressive degeneration of movement” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002333” | “UMLS:C1866284” | “phenio_nodes” | “mental” |
“HP:0002361” | “biolink:PhenotypicFeature” | “Psychomotor deterioration” | “Loss of previously present mental and motor abilities.” | “Psychomotor degeneration” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002361” | “UMLS:C1836842” | “phenio_nodes” | “mental” |
“HP:0010524” | “biolink:PhenotypicFeature” | “Agnosia” | “Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010524” | c(“MSH:D000377”, “SNOMEDCT_US:42341009”, “UMLS:C0001816”) | “phenio_nodes” | “mental” |
“HP:0030222” | “biolink:PhenotypicFeature” | “Visual agnosia” | “Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0030222” | c(“MSH:D000377”, “SNOMEDCT_US:25762009”, “UMLS:C0234502”) | “phenio_nodes” | “mental” |
“HP:0010527” | “biolink:PhenotypicFeature” | “Astereognosia” | “Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.” | c(“Astereognosis”, “Somatosensory agnosia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010527” | c(“MSH:D000377”, “SNOMEDCT_US:25094008”, “UMLS:C0234505”) | “phenio_nodes” | “mental” |
“HP:0010525” | “biolink:PhenotypicFeature” | “Finger agnosia” | “An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010525” | c(“MSH:D000377”, “SNOMEDCT_US:3449007”, “UMLS:C0234509”) | “phenio_nodes” | “mental” |
“HP:0010528” | “biolink:PhenotypicFeature” | “Prosopagnosia” | “Inability to recognize faces of familiar persons.” | c(“Face blindness”, “Facial agnosia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010528” | c(“MSH:D020238”, “SNOMEDCT_US:18358003”, “UMLS:C0234512”) | “phenio_nodes” | “mental” |
“HP:0004372” | “biolink:PhenotypicFeature” | “Reduced consciousness/confusion” | NA | c(“Disturbances of consciousness”, “Lowered consciousness”, “Reduced consciousness/confusion”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0004372” | c(“SNOMEDCT_US:3006004”, “UMLS:C0234428”) | “phenio_nodes” | “mental” |
“HP:0002329” | “biolink:PhenotypicFeature” | “Drowsiness” | “Excessive daytime sleepiness.” | c(“Drowsiness”, “Sleepy”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002329” | c(“MSH:D012894”, “SNOMEDCT_US:271782001”, “SNOMEDCT_US:79519003”, “UMLS:C0013144”) | “phenio_nodes” | “mental” |
“HP:0002330” | “biolink:PhenotypicFeature” | “Paroxysmal drowsiness” | “Attacks of disabling daytime drowsiness and low alertness.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002330” | “UMLS:C4025713” | “phenio_nodes” | “mental” |
“HP:0001289” | “biolink:PhenotypicFeature” | “Confusion” | “Lack of clarity and coherence of thought, perception, understanding, or action.” | c(“Confusion”, “Disorientation”, “Easily confused”, “Mental disorientation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001289” | c(“MSH:D003221”, “SNOMEDCT_US:286933003”, “UMLS:C0009676”) | “phenio_nodes” | “mental” |
“HP:0031258” | “biolink:PhenotypicFeature” | “Delirium” | “A state of sudden and severe confusion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031258” | NA | “phenio_nodes” | “mental” |
“HP:0032044” | “biolink:PhenotypicFeature” | “Decreased vigilance” | “A reduction in the ability to maintain sustained attention characterized by reduced alertness.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032044” | NA | “phenio_nodes” | “mental” |
“HP:0007159” | “biolink:PhenotypicFeature” | “Fluctuations in consciousness” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007159” | “UMLS:C1851959” | “phenio_nodes” | “mental” |
“HP:0007185” | “biolink:PhenotypicFeature” | “Loss of consciousness” | NA | c(“Loss of consciousness”, “Passing out”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007185” | c(“MSH:D014474”, “SNOMEDCT_US:418107008”, “SNOMEDCT_US:419045004”, “UMLS:C0041657”) | “phenio_nodes” | “mental” |
“HP:0031358” | “biolink:PhenotypicFeature” | “Vegetative state” | “Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031358” | NA | “phenio_nodes” | “mental” |
“HP:0001259” | “biolink:PhenotypicFeature” | “Coma” | “Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.” | “Coma” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001259” | c(“ICD-10:R40.2”, “MSH:D003128”, “SNOMEDCT_US:371632003”, “UMLS:C0009421”) | “phenio_nodes” | “mental” |
“HP:0001325” | “biolink:PhenotypicFeature” | “Hypoglycemic coma” | NA | c(“Coma caused by low blood sugar”, “Coma, hypoglycemic”, “Hypoglycaemic coma”, “Loss of consciousness due to hypoglycemia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001325” | c(“SNOMEDCT_US:267384006”, “UMLS:C0020617”) | “phenio_nodes” | “mental” |
“HP:0001254” | “biolink:PhenotypicFeature” | “Lethargy” | “A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.” | “Lethargy” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001254” | c(“MSH:D053609”, “SNOMEDCT_US:214264003”, “UMLS:C0023380”) | “phenio_nodes” | “mental” |
“HP:0011973” | “biolink:PhenotypicFeature” | “Paroxysmal lethargy” | “Repeated episodes of sudden-onset and transient lethargy.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011973” | “UMLS:C1847507” | “phenio_nodes” | “mental” |
“HP:0031868” | “biolink:PhenotypicFeature” | “Optic ataxia” | “Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031868” | NA | “phenio_nodes” | “mental” |
“HP:5200423” | “biolink:PhenotypicFeature” | “Abnormal experience of reality” | “Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200423” | NA | “phenio_nodes” | “mental” |
“HP:5200401” | “biolink:PhenotypicFeature” | “Abnormal judgment” | “Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200401” | NA | “phenio_nodes” | “mental” |
“HP:5200230” | “biolink:PhenotypicFeature” | “Maladaptive fear-related cognitions” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_5200230” | NA | “phenio_nodes” | “mental” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “HP:0002167” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f06e7c52-e8f3-444f-842f-566b2c098d4f” | c(“biolink:Association”, “biolink:Entity”) |
3 | 2 | “HP:0002425” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:02c4eb59-6941-414c-932a-9a3b3b3ca7a9” | c(“biolink:Association”, “biolink:Entity”) |
4 | 2 | “HP:0002546” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:09a64d00-bcc3-4028-9fc8-f4f570e78c7d” | c(“biolink:Association”, “biolink:Entity”) |
5 | 2 | “HP:0002371” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c48c8a12-369c-4d28-92f9-2f9da360f6a3” | c(“biolink:Association”, “biolink:Entity”) |
6 | 2 | “HP:0001260” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:451b6b5e-5a6f-42e6-b447-f0ceba8aff26” | c(“biolink:Association”, “biolink:Entity”) |
7 | 6 | “HP:0008376” | “biolink:subclass_of” | “HP:0001260” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:25688845-65f9-4614-898b-4daf90d6f519” | c(“biolink:Association”, “biolink:Entity”) |
8 | 6 | “HP:0002464” | “biolink:subclass_of” | “HP:0001260” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:44525720-644c-4870-a4d1-e6477e264895” | c(“biolink:Association”, “biolink:Entity”) |
9 | 6 | “HP:0007024” | “biolink:subclass_of” | “HP:0001260” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fd811038-2b48-4fa2-9e93-cda06d199885” | c(“biolink:Association”, “biolink:Entity”) |
10 | 2 | “HP:0002168” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c55bd284-53c4-4f97-a664-fd87b00d40f6” | c(“biolink:Association”, “biolink:Entity”) |
11 | 2 | “HP:0002465” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fd5d0219-baf6-4e96-bcd3-c71af038ac86” | c(“biolink:Association”, “biolink:Entity”) |
12 | 2 | “HP:0025268” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b93a5bc4-ddb5-453b-97d1-773d5178906c” | c(“biolink:Association”, “biolink:Entity”) |
13 | 2 | “HP:0002381” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c022f7f5-6b62-4fa4-b9dd-33f33644b5eb” | c(“biolink:Association”, “biolink:Entity”) |
14 | 13 | “HP:0002427” | “biolink:subclass_of” | “HP:0002381” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2ea3056a-3335-49b2-96c3-5fd056db045e” | c(“biolink:Association”, “biolink:Entity”) |
15 | 13 | “HP:0033848” | “biolink:subclass_of” | “HP:0002381” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9de37015-a8cb-48d7-9d18-10e8a01dfe55” | c(“biolink:Association”, “biolink:Entity”) |
16 | 13 | “HP:0033849” | “biolink:subclass_of” | “HP:0002381” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:059fe730-3f52-4829-8336-68e92b0d27fd” | c(“biolink:Association”, “biolink:Entity”) |
17 | 13 | “HP:0030784” | “biolink:subclass_of” | “HP:0002381” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d98e8aa2-68f9-4747-a125-641ceb12c5ee” | c(“biolink:Association”, “biolink:Entity”) |
18 | 2 | “HP:0010526” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:30bb0a5e-d95a-414c-a1ef-f4c926eacca0” | c(“biolink:Association”, “biolink:Entity”) |
19 | 2 | “HP:0010523” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:837d34c9-3ffb-4bda-b9da-84961b87308a” | c(“biolink:Association”, “biolink:Entity”) |
20 | 2 | “HP:0031434” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3704a8c8-74cc-4eab-82bb-f1b63f718d30” | c(“biolink:Association”, “biolink:Entity”) |
21 | 20 | “HP:5200011” | “biolink:subclass_of” | “HP:0031434” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7c22cf97-8577-4b0a-815c-2cbf5f2101ed” | c(“biolink:Association”, “biolink:Entity”) |
22 | 21 | “HP:0031937” | “biolink:subclass_of” | “HP:5200011” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e66a1d38-240a-4694-8826-b2ee0e2d012a” | c(“biolink:Association”, “biolink:Entity”) |
23 | 21 | “HP:5200038” | “biolink:subclass_of” | “HP:5200011” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:49334775-e468-4b29-af73-046530440c60” | c(“biolink:Association”, “biolink:Entity”) |
24 | 20 | “HP:5200010” | “biolink:subclass_of” | “HP:0031434” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:04f3f07f-bd3c-45ab-a409-398c0e7fa79f” | c(“biolink:Association”, “biolink:Entity”) |
25 | 24 | “HP:0031435” | “biolink:subclass_of” | “HP:5200010” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2df65f59-776d-4bcd-b544-a9e8349ea683” | c(“biolink:Association”, “biolink:Entity”) |
26 | 24 | “HP:5200005” | “biolink:subclass_of” | “HP:5200010” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3d4768d5-48c3-42c1-b6d2-c79c1237ce15” | c(“biolink:Association”, “biolink:Entity”) |
27 | 26 | “HP:0001620” | “biolink:subclass_of” | “HP:5200005” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0afb06e8-0dda-4187-978a-cfd625e3d39c” | c(“biolink:Association”, “biolink:Entity”) |
28 | 26 | “HP:0010300” | “biolink:subclass_of” | “HP:5200005” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:743d61c2-af1e-42cf-b2d2-acd23ac23973” | c(“biolink:Association”, “biolink:Entity”) |
29 | 24 | “HP:0031436” | “biolink:subclass_of” | “HP:5200010” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c738adbb-7ab5-4b84-91bf-d22cf6a880f9” | c(“biolink:Association”, “biolink:Entity”) |
30 | 20 | “HP:5200012” | “biolink:subclass_of” | “HP:0031434” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:af557cc5-0f17-410a-b83a-760353a0c85c” | c(“biolink:Association”, “biolink:Entity”) |
31 | 2 | “HP:0002526” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2afa1f85-bda0-4664-be94-28cb94276951” | c(“biolink:Association”, “biolink:Entity”) |
32 | 2 | “HP:5200043” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e1ea4ed5-c7d7-4b35-ac35-f40538c0fdf5” | c(“biolink:Association”, “biolink:Entity”) |
33 | 32 | “HP:5200040” | “biolink:subclass_of” | “HP:5200043” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ef881679-0df1-47c9-805f-a83076d980b2” | c(“biolink:Association”, “biolink:Entity”) |
34 | 32 | “HP:5200039” | “biolink:subclass_of” | “HP:5200043” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:16da3da4-65fe-4555-9f4b-36675ab84483” | c(“biolink:Association”, “biolink:Entity”) |
35 | 1 | “HP:0031908” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fda22002-d047-414f-9988-050b24f266e6” | c(“biolink:Association”, “biolink:Entity”) |
36 | 1 | “HP:0002186” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4e9aaa35-3620-4a24-a2e5-cb9c0d00126d” | c(“biolink:Association”, “biolink:Entity”) |
37 | 36 | “HP:0000658” | “biolink:subclass_of” | “HP:0002186” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7c6c8f56-1cad-44d0-8949-13e54ed1c0cb” | c(“biolink:Association”, “biolink:Entity”) |
38 | 36 | “HP:0032588” | “biolink:subclass_of” | “HP:0002186” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:504aaed6-dd1c-4ae8-bf72-f3139eee558a” | c(“biolink:Association”, “biolink:Entity”) |
39 | 36 | “HP:0030217” | “biolink:subclass_of” | “HP:0002186” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:355ad352-4ecb-4d85-9123-80b673775361” | c(“biolink:Association”, “biolink:Entity”) |
40 | 36 | “HP:0007301” | “biolink:subclass_of” | “HP:0002186” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d8c55cbb-2ad0-4eb0-bf2e-ebf94e63faf4” | c(“biolink:Association”, “biolink:Entity”) |
41 | 36 | “HP:0011098” | “biolink:subclass_of” | “HP:0002186” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ac0fe115-539a-4d97-b2ce-ea4924e32f81” | c(“biolink:Association”, “biolink:Entity”) |
42 | 1 | “HP:0100543” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:a34939e8-d6aa-4ab6-8e0e-dfef9b41f80e” | c(“biolink:Association”, “biolink:Entity”) |
43 | 42 | “HP:0002354” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:71fd176b-671a-4ae7-a11f-da1031b5ca1e” | c(“biolink:Association”, “biolink:Entity”) |
44 | 43 | “HP:0007017” | “biolink:subclass_of” | “HP:0002354” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:881e2cd5-7d23-4165-bcb2-b99bb7c5d09e” | c(“biolink:Association”, “biolink:Entity”) |
45 | 43 | “HP:0033687” | “biolink:subclass_of” | “HP:0002354” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2cfc187e-bccb-424a-8f05-3214c60311ca” | c(“biolink:Association”, “biolink:Entity”) |
46 | 45 | “HP:0002549” | “biolink:subclass_of” | “HP:0033687” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:635fe62b-3e79-4368-baa0-8f6e72d3a167” | c(“biolink:Association”, “biolink:Entity”) |
47 | 43 | “HP:0033688” | “biolink:subclass_of” | “HP:0002354” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ac79fae8-d2d1-4078-97b4-7116d2d739d1” | c(“biolink:Association”, “biolink:Entity”) |
48 | 47 | “HP:0033689” | “biolink:subclass_of” | “HP:0033688” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7a5fc106-102d-4b58-9a7c-a8ff4c244ce6” | c(“biolink:Association”, “biolink:Entity”) |
49 | 47 | “HP:0033690” | “biolink:subclass_of” | “HP:0033688” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4e9be5de-6642-441c-bd4c-118f436d9857” | c(“biolink:Association”, “biolink:Entity”) |
50 | 49 | “HP:0033692” | “biolink:subclass_of” | “HP:0033690” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c608c453-3001-4649-b6e3-ee240f2692b8” | c(“biolink:Association”, “biolink:Entity”) |
51 | 49 | “HP:0033691” | “biolink:subclass_of” | “HP:0033690” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8eb7091b-11fe-44f9-a4cd-257fbbc8687b” | c(“biolink:Association”, “biolink:Entity”) |
52 | 43 | “HP:0010534” | “biolink:subclass_of” | “HP:0002354” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5c9d9532-faf7-4bb0-812e-4f9268ae18fd” | c(“biolink:Association”, “biolink:Entity”) |
53 | 42 | “HP:0001249” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3e1c3cc5-8d6d-4f4a-b7f6-c9bcf7c4805f” | c(“biolink:Association”, “biolink:Entity”) |
54 | 53 | “HP:0001256” | “biolink:subclass_of” | “HP:0001249” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3432ea18-59b7-4fe1-9e0a-30204f12d3a5” | c(“biolink:Association”, “biolink:Entity”) |
55 | 53 | “HP:0002187” | “biolink:subclass_of” | “HP:0001249” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c49193e8-d3f8-4969-b19a-ab8f5a692164” | c(“biolink:Association”, “biolink:Entity”) |
56 | 53 | “HP:0002342” | “biolink:subclass_of” | “HP:0001249” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f54f67be-ac10-4632-8aec-4919f8aa321c” | c(“biolink:Association”, “biolink:Entity”) |
57 | 53 | “HP:0006889” | “biolink:subclass_of” | “HP:0001249” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:cd687d66-f985-40ed-8cc5-e5eab8e163a7” | c(“biolink:Association”, “biolink:Entity”) |
58 | 53 | “HP:0006887” | “biolink:subclass_of” | “HP:0001249” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5afb7318-9b79-44d7-b163-e1d575c7c39b” | c(“biolink:Association”, “biolink:Entity”) |
59 | 53 | “HP:0010864” | “biolink:subclass_of” | “HP:0001249” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4b2de578-3208-42f5-902c-c18135dd47d9” | c(“biolink:Association”, “biolink:Entity”) |
60 | 42 | “HP:0031843” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:095d272e-1a43-4474-9b6f-057ef14d90a4” | c(“biolink:Association”, “biolink:Entity”) |
61 | 42 | “HP:0033630” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8dedb5f2-ff94-4491-9ae8-bfa5e8bc3f61” | c(“biolink:Association”, “biolink:Entity”) |
62 | 42 | “HP:0033844” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:df71bce7-7cbb-47f1-a68b-c992003f614d” | c(“biolink:Association”, “biolink:Entity”) |
63 | 42 | “HP:0001268” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:20a1dba2-7cf5-4cba-b610-c5709300c025” | c(“biolink:Association”, “biolink:Entity”) |
64 | 63 | “HP:0007086” | “biolink:subclass_of” | “HP:0001268” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:a6f34818-b343-4d8c-86b7-ad00e0c53d7f” | c(“biolink:Association”, “biolink:Entity”) |
65 | 63 | “HP:0000726” | “biolink:subclass_of” | “HP:0001268” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7cfe9424-dbdb-4962-bdbb-06fcc210707e” | c(“biolink:Association”, “biolink:Entity”) |
66 | 65 | “HP:0002439” | “biolink:subclass_of” | “HP:0000726” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6cf5a0d5-cc6a-4cf6-b0da-03f9db7071f0” | c(“biolink:Association”, “biolink:Entity”) |
67 | 65 | “HP:0000727” | “biolink:subclass_of” | “HP:0000726” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1f4aff11-f7d8-4a25-a81a-02e81bc6467f” | c(“biolink:Association”, “biolink:Entity”) |
68 | 65 | “HP:0007123” | “biolink:subclass_of” | “HP:0000726” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0bd9f27d-feac-41f8-8879-47a35dd5816f” | c(“biolink:Association”, “biolink:Entity”) |
69 | 65 | “HP:0002145” | “biolink:subclass_of” | “HP:0000726” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7e5556fe-7c07-4922-926f-1fde763642bd” | c(“biolink:Association”, “biolink:Entity”) |
70 | 69 | “HP:0030219” | “biolink:subclass_of” | “HP:0002145” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0b594ec9-7b4c-40a4-a7f4-c9d0a01508e0” | c(“biolink:Association”, “biolink:Entity”) |
71 | 63 | “HP:0002344” | “biolink:subclass_of” | “HP:0001268” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:24a4476c-356e-4f2c-a129-b4c732344f2e” | c(“biolink:Association”, “biolink:Entity”) |
72 | 71 | “HP:0007307” | “biolink:subclass_of” | “HP:0002344” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c66d8369-7751-4437-bb3a-72578d1f4448” | c(“biolink:Association”, “biolink:Entity”) |
73 | 71 | “HP:0007064” | “biolink:subclass_of” | “HP:0002344” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:07ab1890-104f-4b32-a50f-93c201f1478a” | c(“biolink:Association”, “biolink:Entity”) |
74 | 71 | “HP:0007272” | “biolink:subclass_of” | “HP:0002344” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:aaa270bf-7302-45b7-b157-9355b6cd9ca5” | c(“biolink:Association”, “biolink:Entity”) |
75 | 63 | “HP:0002333” | “biolink:subclass_of” | “HP:0001268” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e3057991-8e95-42b4-a402-b7ebc58b1182” | c(“biolink:Association”, “biolink:Entity”) |
76 | 63 | “HP:0002361” | “biolink:subclass_of” | “HP:0001268” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:61f6a988-1a39-4533-8677-41b86fcfb6bb” | c(“biolink:Association”, “biolink:Entity”) |
77 | 1 | “HP:0010524” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b36dc06c-9ef6-4890-909a-a3f7bd8d75c4” | c(“biolink:Association”, “biolink:Entity”) |
78 | 77 | “HP:0030222” | “biolink:subclass_of” | “HP:0010524” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:20d3b8bc-39dd-423d-8242-2ec5a7d9730d” | c(“biolink:Association”, “biolink:Entity”) |
79 | 77 | “HP:0010527” | “biolink:subclass_of” | “HP:0010524” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:82b8b839-e63e-41da-a5f7-b5749aa433dc” | c(“biolink:Association”, “biolink:Entity”) |
80 | 77 | “HP:0010525” | “biolink:subclass_of” | “HP:0010524” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:864b88dc-f80d-43a0-ba27-78e110f8c83a” | c(“biolink:Association”, “biolink:Entity”) |
81 | 77 | “HP:0010528” | “biolink:subclass_of” | “HP:0010524” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c65e28f1-f723-491e-891a-2719791a883e” | c(“biolink:Association”, “biolink:Entity”) |
82 | 1 | “HP:0004372” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c163a9f3-0600-4ffd-a164-e87d64dc1639” | c(“biolink:Association”, “biolink:Entity”) |
83 | 82 | “HP:0002329” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fdaf3706-9f13-49bb-b3f8-b366f8639bf2” | c(“biolink:Association”, “biolink:Entity”) |
84 | 83 | “HP:0002330” | “biolink:subclass_of” | “HP:0002329” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ce8af3d6-cdc4-44fc-bdd7-a3a650ccd830” | c(“biolink:Association”, “biolink:Entity”) |
85 | 82 | “HP:0001289” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4140d520-53d8-41d2-85de-198d3b31cbed” | c(“biolink:Association”, “biolink:Entity”) |
86 | 85 | “HP:0031258” | “biolink:subclass_of” | “HP:0001289” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e33c3b0b-545d-4d8d-a2fd-07951ee6e18a” | c(“biolink:Association”, “biolink:Entity”) |
87 | 82 | “HP:0032044” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:edbca194-40fe-4047-a8e0-133358a5e035” | c(“biolink:Association”, “biolink:Entity”) |
88 | 82 | “HP:0007159” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f2d9d7ce-c150-4067-a5f1-d006b5e24e1c” | c(“biolink:Association”, “biolink:Entity”) |
89 | 82 | “HP:0007185” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d65a7573-6bb2-457b-bca8-814f85581d9e” | c(“biolink:Association”, “biolink:Entity”) |
90 | 82 | “HP:0031358” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f66f9b51-c60d-4090-b24b-3c63ac2290a9” | c(“biolink:Association”, “biolink:Entity”) |
91 | 82 | “HP:0001259” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:000563b2-f310-4754-a7b6-339adea9e272” | c(“biolink:Association”, “biolink:Entity”) |
92 | 91 | “HP:0001325” | “biolink:subclass_of” | “HP:0001259” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:19ecb573-f1ff-4f9e-81a5-22ac5e52ae41” | c(“biolink:Association”, “biolink:Entity”) |
93 | 82 | “HP:0001254” | “biolink:subclass_of” | “HP:0004372” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c11e2572-0c90-40cd-9ee3-75edd882f9e8” | c(“biolink:Association”, “biolink:Entity”) |
94 | 93 | “HP:0011973” | “biolink:subclass_of” | “HP:0001254” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e56ac6e9-46f3-4e7a-ba3b-39fa1aa95308” | c(“biolink:Association”, “biolink:Entity”) |
95 | 1 | “HP:0031868” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8f2cb284-4bd3-4bb3-8b7c-1179d46c7f4a” | c(“biolink:Association”, “biolink:Entity”) |
96 | 1 | “HP:5200423” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:21817aef-b7ba-4342-91ba-02484f29fc04” | c(“biolink:Association”, “biolink:Entity”) |
97 | 96 | “HP:5200401” | “biolink:subclass_of” | “HP:5200423” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3919ce6a-3231-4d1a-aa04-008f8cfaa56b” | c(“biolink:Association”, “biolink:Entity”) |
98 | 97 | “HP:5200230” | “biolink:subclass_of” | “HP:5200401” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d3a2cad0-1d75-419e-abf9-8eebc1150cec” | c(“biolink:Association”, “biolink:Entity”) |
# and what they have in common
behavioral_and_mental <- atypical_behaviors |>
activate(nodes) |>
filter(id %in% nodes(atypical_mental_functions)$id) |>
mutate(type = "both")
behavioral_and_mental
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) | type |
---|---|---|---|---|---|---|---|---|---|
“HP:0000708” | “biolink:PhenotypicFeature” | “Atypical behavior” | “Atypical behavior is an abnormality in a person’s actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual’s will.” | c(“Behavioral abnormality”, “Behavioral changes”, “Behavioral disorders”, “Behavioral disturbances”, “Behavioral problems”, “Behavioral symptoms”, “Behavioral/psychiatric abnormalities”, “Behavioural abnormality”, “Behavioural changes”, “Behavioural disorders”, “Behavioural disturbances”, “Behavioural problems”, “Behavioural symptoms”, “Behavioural/Psychiatric abnormality”, “Psychiatric disorders”, “Psychiatric disturbances”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000708” | c(“MSH:D000066553”, “MSH:D001526”, “SNOMEDCT_US:25786006”, “SNOMEDCT_US:277843001”, “UMLS:C0004941”, “UMLS:C0233514”) | “phenio_nodes” | “both” |
“HP:0000738” | “biolink:PhenotypicFeature” | “Hallucinations” | “Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.” | c(“Hallucination”, “Hallucinations”, “Sensory hallucination”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000738” | c(“MSH:D006212”, “SNOMEDCT_US:7011001”, “UMLS:C0018524”, “UMLS:C0235153”) | “phenio_nodes” | “both” |
“HP:0006896” | “biolink:PhenotypicFeature” | “Hypnopompic hallucinations” | “Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006896” | c(“MSH:D006212”, “SNOMEDCT_US:69690008”, “UMLS:C0424082”) | “phenio_nodes” | “both” |
“HP:0002519” | “biolink:PhenotypicFeature” | “Hypnagogic hallucinations” | “Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002519” | c(“MSH:D006212”, “SNOMEDCT_US:44780000”, “UMLS:C0233773”) | “phenio_nodes” | “both” |
“HP:0008765” | “biolink:PhenotypicFeature” | “Auditory hallucinations” | “The false perception of sound.” | c(“Hallucinations of sound”, “Hearing sounds”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008765” | c(“MSH:D006212”, “SNOMEDCT_US:45150006”, “UMLS:C0233762”) | “phenio_nodes” | “both” |
“HP:0006803” | “biolink:PhenotypicFeature” | “Vivid hallucinations” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006803” | “UMLS:C4024978” | “phenio_nodes” | “both” |
“HP:0033694” | “biolink:PhenotypicFeature” | “Tactile hallucination” | “The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.” | “Tactile hallucinations” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0033694” | NA | “phenio_nodes” | “both” |
“HP:0002367” | “biolink:PhenotypicFeature” | “Visual hallucinations” | “Visual perceptions that are not elicited by a corresponding stimulus from the outside world.” | “Visual hallucinations” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002367” | c(“MSH:D006212”, “SNOMEDCT_US:64269007”, “UMLS:C0233763”) | “phenio_nodes” | “both” |
“HP:0000709” | “biolink:PhenotypicFeature” | “Psychosis” | “A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.” | “Psychosis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000709” | c(“MSH:D011618”, “SNOMEDCT_US:69322001”, “UMLS:C0033975”) | “phenio_nodes” | “both” |
“HP:0001345” | “biolink:PhenotypicFeature” | “Psychotic mentation” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001345” | “UMLS:C4025789” | “phenio_nodes” | “both” |
“HP:0000725” | “biolink:PhenotypicFeature” | “Psychotic episodes” | NA | “Psychotic episodes” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000725” | “UMLS:C0338614” | “phenio_nodes” | “both” |
“HP:0006932” | “biolink:PhenotypicFeature” | “Transient psychotic episodes” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006932” | “UMLS:C4024958” | “phenio_nodes” | “both” |
“HP:0100753” | “biolink:PhenotypicFeature” | “Schizophrenia” | “A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0100753” | c(“MSH:D012559”, “SNOMEDCT_US:191526005”, “SNOMEDCT_US:58214004”, “UMLS:C0036341”) | “phenio_nodes” | “both” |
“HP:0000496” | “biolink:PhenotypicFeature” | “Abnormality of eye movement” | “An abnormality in voluntary or involuntary eye movements or their control.” | c(“Abnormal extraocular movement”, “Abnormal extraocular movements”, “Abnormal eye motility”, “Abnormal eye movement”, “Abnormal eye movements”, “Abnormal motility of the globe of the eye”, “Abnormal movement of the globe of the eye”, “Abnormal ocular movements”, “Abnormality of eye movement”, “Eye movement abnormalities”, “Eye movement issue”, “Ocular movement abnormalities”, “Oculomotor abnormalities”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000496” | c(“SNOMEDCT_US:103252009”, “UMLS:C0497202”) | “phenio_nodes” | “both” |
“HP:0007941” | “biolink:PhenotypicFeature” | “Limited extraocular movements” | “Limited mobility of the eye within its socket.” | “Limited extraocular movement” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007941” | “UMLS:C1858427” | “phenio_nodes” | “both” |
“HP:0025721” | “biolink:PhenotypicFeature” | “Limited vertical extraocular movement” | “Limited mobility of the eye to move up and down (vertically) within its socket.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025721” | NA | “phenio_nodes” | “both” |
“HP:0025720” | “biolink:PhenotypicFeature” | “Limited horizontal extraocular movement” | “Limited mobility of the eye to move from side to side (horizontally) within its socket.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025720” | NA | “phenio_nodes” | “both” |
“HP:0000617” | “biolink:PhenotypicFeature” | “Abnormality of ocular smooth pursuit” | “An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.” | c(“Abnormal smooth pursuits”, “Disrupted ocular pursuit movements”, “Impaired smooth pursuit ocular movements”, “Irregular visual pursuit movements”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000617” | “UMLS:C1836393” | “phenio_nodes” | “both” |
“HP:0001152” | “biolink:PhenotypicFeature” | “Saccadic smooth pursuit” | “An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.” | c(“Saccadic pursuit movements”, “Saccadic slow pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001152” | “UMLS:C1836479” | “phenio_nodes” | “both” |
“HP:0007792” | “biolink:PhenotypicFeature” | “Microsaccadic pursuit” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007792” | “UMLS:C1843892” | “phenio_nodes” | “both” |
“HP:0007944” | “biolink:PhenotypicFeature” | “Intermittent microsaccadic pursuits” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007944” | “UMLS:C4024768” | “phenio_nodes” | “both” |
“HP:0007772” | “biolink:PhenotypicFeature” | “Impaired smooth pursuit” | “An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.” | c(“Abnormal visual pursuit”, “Abnormality of visual tracking”, “Impairment of visual pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007772” | c(“UMLS:C1837458”, “UMLS:C1848530”) | “phenio_nodes” | “both” |
“HP:0007179” | “biolink:PhenotypicFeature” | “Absent smooth pursuit” | “A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007179” | “UMLS:C4024928” | “phenio_nodes” | “both” |
“HP:0001151” | “biolink:PhenotypicFeature” | “Impaired horizontal smooth pursuit” | “An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.” | c(“Abnormal horizontal ocular pursuit”, “Impaired horizontal visual pursuit”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001151” | “UMLS:C1866753” | “phenio_nodes” | “both” |
“HP:0008003” | “biolink:PhenotypicFeature” | “Jerky ocular pursuit movements” | NA | “Jerky smooth pursuit” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0008003” | “UMLS:C1853558” | “phenio_nodes” | “both” |
“HP:0007668” | “biolink:PhenotypicFeature” | “Impaired pursuit initiation and maintenance” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007668” | “UMLS:C1969722” | “phenio_nodes” | “both” |
“HP:0025404” | “biolink:PhenotypicFeature” | “Abnormal visual fixation” | “Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025404” | NA | “phenio_nodes” | “both” |
“HP:0025405” | “biolink:PhenotypicFeature” | “Visual fixation instability” | “A deficit in the ability to fixate eye movements in order to stabilize images on the retina” | “Instability of ocular fixation” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025405” | NA | “phenio_nodes” | “both” |
“HP:0025549” | “biolink:PhenotypicFeature” | “Eccentric visual fixation” | “A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.” | “Eccentric fixation” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025549” | NA | “phenio_nodes” | “both” |
“HP:0031769” | “biolink:PhenotypicFeature” | “Peripheral fixation” | “Fixation of an object in a peripheral area of the retina.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031769” | NA | “phenio_nodes” | “both” |
“HP:0031768” | “biolink:PhenotypicFeature” | “Parafoveal fixation” | “Fixation of an object in the area adjacent to the fovea.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031768” | NA | “phenio_nodes” | “both” |
“HP:0500072” | “biolink:PhenotypicFeature” | “Absolute eccentric fixation” | “Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500072” | NA | “phenio_nodes” | “both” |
“HP:0000549” | “biolink:PhenotypicFeature” | “Abnormal conjugate eye movement” | “Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.” | “Disconjugate eye movements” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000549” | “UMLS:C1845274” | “phenio_nodes” | “both” |
“HP:0000605” | “biolink:PhenotypicFeature” | “Supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | “Supranuclear gaze paralysis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000605” | c(“SNOMEDCT_US:420675003”, “UMLS:C1720037”) | “phenio_nodes” | “both” |
“HP:0007817” | “biolink:PhenotypicFeature” | “Horizontal supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0007817” | “UMLS:C4024794” | “phenio_nodes” | “both” |
“HP:0000511” | “biolink:PhenotypicFeature” | “Vertical supranuclear gaze palsy” | “A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.” | “Vertical gaze palsy” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000511” | c(“SNOMEDCT_US:246773002”, “UMLS:C0339652”, “UMLS:C1843369”) | “phenio_nodes” | “both” |
“HP:0025331” | “biolink:PhenotypicFeature” | “Upgaze palsy” | “A limitation of the ability to direct one’s gaze above the horizontal meridian.” | c(“Supranuclear upgaze palsy”, “Upgaze paresis”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025331” | NA | “phenio_nodes” | “both” |
“HP:0025330” | “biolink:PhenotypicFeature” | “Downgaze palsy” | “A limitation of the ability to direct one’s gaze below the horizontal meridian.” | c(“Downgaze paresis”, “Supranuclear downgaze palsy”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025330” | NA | “phenio_nodes” | “both” |
“HP:0000486” | “biolink:PhenotypicFeature” | “Strabismus” | “A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.” | c(“Cross-eyed”, “Squint”, “Squint eyes”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000486” | c(“MSH:D013285”, “SNOMEDCT_US:128602000”, “SNOMEDCT_US:22066006”, “UMLS:C0038379”) | “phenio_nodes” | “both” |
“HP:0020049” | “biolink:PhenotypicFeature” | “Exodeviation” | “A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.” | “Divergent strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020049” | NA | “phenio_nodes” | “both” |
“HP:0000577” | “biolink:PhenotypicFeature” | “Exotropia” | “A form of strabismus with one or both eyes deviated outward.” | “Outward facing eye ball” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000577” | c(“MSH:D005099”, “SNOMEDCT_US:399054005”, “SNOMEDCT_US:399252000”, “UMLS:C0015310”) | “phenio_nodes” | “both” |
“HP:0031721” | “biolink:PhenotypicFeature” | “Sensory exotropia” | “A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.” | “Secondary exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031721” | NA | “phenio_nodes” | “both” |
“HP:0031714” | “biolink:PhenotypicFeature” | “Distance exotropia” | “A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031714” | NA | “phenio_nodes” | “both” |
“HP:0031720” | “biolink:PhenotypicFeature” | “Simulated distance exotropia” | “Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031720” | NA | “phenio_nodes” | “both” |
“HP:0031719” | “biolink:PhenotypicFeature” | “True distance exotropia” | “Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031719” | NA | “phenio_nodes” | “both” |
“HP:0031716” | “biolink:PhenotypicFeature” | “Cyclic exotropia” | “A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031716” | NA | “phenio_nodes” | “both” |
“HP:0031715” | “biolink:PhenotypicFeature” | “Near exotropia” | “An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031715” | NA | “phenio_nodes” | “both” |
“HP:0031718” | “biolink:PhenotypicFeature” | “Consecutive exotropia” | “Exotropia in an individual who has previously had esotropia or esophoria.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031718” | NA | “phenio_nodes” | “both” |
“HP:0031713” | “biolink:PhenotypicFeature” | “Constant exotropia” | “A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031713” | NA | “phenio_nodes” | “both” |
“HP:0032009” | “biolink:PhenotypicFeature” | “Infantile constant exotropia” | “Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.” | “Infantile (constant) exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032009” | NA | “phenio_nodes” | “both” |
“HP:0032010” | “biolink:PhenotypicFeature” | “Basic constant exotropia” | “Constant exotropia for near and distance, presenting after 6 months of age.” | “Basic (constant) exotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032010” | NA | “phenio_nodes” | “both” |
“HP:0031717” | “biolink:PhenotypicFeature” | “Alternating exotropia” | “A type of exotropia in which either eye may be used for fixation.” | “Alternating strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031717” | NA | “phenio_nodes” | “both” |
“HP:0025313” | “biolink:PhenotypicFeature” | “Exophoria” | “A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025313” | NA | “phenio_nodes” | “both” |
“HP:0010877” | “biolink:PhenotypicFeature” | “Monocular strabismus” | “A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes ‘squints’ at different times.” | “Unilateral strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010877” | “UMLS:C4023678” | “phenio_nodes” | “both” |
“HP:0032012” | “biolink:PhenotypicFeature” | “Heterotropia” | “Manifest deviation of the visual axes not controlled by fusion.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032012” | NA | “phenio_nodes” | “both” |
“HP:0000565” | “biolink:PhenotypicFeature” | “Esotropia” | “A form of strabismus with one or both eyes turned inward (‘crossed’) to a relatively severe degree, usually defined as 10 diopters or more.” | “Inward turning cross eyed” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000565” | c(“MSH:D004948”, “SNOMEDCT_US:16596007”, “UMLS:C0014877”) | “phenio_nodes” | “both” |
“HP:0020046” | “biolink:PhenotypicFeature” | “Accommodative esotropia” | “A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020046” | NA | “phenio_nodes” | “both” |
“HP:0031766” | “biolink:PhenotypicFeature” | “Convergence excess esotropia” | “An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031766” | NA | “phenio_nodes” | “both” |
“HP:0031765” | “biolink:PhenotypicFeature” | “Partially accomodative esotropia” | “A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.” | c(“Constant esotropia with an accommodative component”, “Constant esotropia with an accommodative element”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031765” | NA | “phenio_nodes” | “both” |
“HP:0031764” | “biolink:PhenotypicFeature” | “Fully accomodative esotropia” | “Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031764” | NA | “phenio_nodes” | “both” |
“HP:0031723” | “biolink:PhenotypicFeature” | “Secondary esotropia” | “Convergent squint which follows loss or impairment of vision.” | “Sensory esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031723” | NA | “phenio_nodes” | “both” |
“HP:0031767” | “biolink:PhenotypicFeature” | “Consecutive esotropia” | “Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031767” | NA | “phenio_nodes” | “both” |
“HP:0031760” | “biolink:PhenotypicFeature” | “Non-accomodative esotropia” | “A form of esotropia in which the angle of deviation is not affected by accommodative effort.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031760” | NA | “phenio_nodes” | “both” |
“HP:0031759” | “biolink:PhenotypicFeature” | “Basic constant esotropia” | “A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).” | “Basic (constant) esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031759” | NA | “phenio_nodes” | “both” |
“HP:0031762” | “biolink:PhenotypicFeature” | “Distance esotropia” | “An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.” | “Divergence insufficiency” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031762” | NA | “phenio_nodes” | “both” |
“HP:0031722” | “biolink:PhenotypicFeature” | “Near esotropia” | “An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.” | “Non-accomodative convergence excess esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031722” | NA | “phenio_nodes” | “both” |
“HP:0031763” | “biolink:PhenotypicFeature” | “Cyclic esotropia” | “Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031763” | NA | “phenio_nodes” | “both” |
“HP:0031761” | “biolink:PhenotypicFeature” | “Infantile constant esotropia” | “Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.” | “Infantile (constant) esotropia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031761” | NA | “phenio_nodes” | “both” |
“HP:0001137” | “biolink:PhenotypicFeature” | “Alternating esotropia” | “Esotropia in which either eye may be used for fixation.” | “Alternating cross eyes” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001137” | c(“SNOMEDCT_US:39837002”, “UMLS:C0152205”) | “phenio_nodes” | “both” |
“HP:0025584” | “biolink:PhenotypicFeature” | “Hypotropia” | “A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025584” | NA | “phenio_nodes” | “both” |
“HP:0500078” | “biolink:PhenotypicFeature” | “Alternating hypotropia” | “A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500078” | NA | “phenio_nodes” | “both” |
“HP:0025586” | “biolink:PhenotypicFeature” | “Hypertropia” | “A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025586” | NA | “phenio_nodes” | “both” |
“HP:0500076” | “biolink:PhenotypicFeature” | “Alternating hypertropia” | “A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500076” | NA | “phenio_nodes” | “both” |
“HP:0031776” | “biolink:PhenotypicFeature” | “Cyclotropia” | “A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031776” | NA | “phenio_nodes” | “both” |
“HP:0031727” | “biolink:PhenotypicFeature” | “Excyclotropia” | “A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031727” | NA | “phenio_nodes” | “both” |
“HP:0031726” | “biolink:PhenotypicFeature” | “Incyclotropia” | “A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031726” | NA | “phenio_nodes” | “both” |
“HP:0031724” | “biolink:PhenotypicFeature” | “Microtropia” | “A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031724” | NA | “phenio_nodes” | “both” |
“HP:0031781” | “biolink:PhenotypicFeature” | “Microtropia with identity” | “A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031781” | NA | “phenio_nodes” | “both” |
“HP:0031782” | “biolink:PhenotypicFeature” | “Microtropia without identity” | “A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031782” | NA | “phenio_nodes” | “both” |
“HP:0025068” | “biolink:PhenotypicFeature” | “Incomitant strabismus” | “Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025068” | NA | “phenio_nodes” | “both” |
“HP:0009921” | “biolink:PhenotypicFeature” | “Duane anomaly” | “A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction” | c(“Globe retraction and deviation on adduction”, “Limited eye motility from Duane anomaly”, “Limited eye movement from Duane anomaly”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0009921” | c(“MSH:D004370”, “SNOMEDCT_US:60318001”, “UMLS:C0013261”, “UMLS:C1846464”, “UMLS:C4072873”) | “phenio_nodes” | “both” |
“HP:0020043” | “biolink:PhenotypicFeature” | “Vertical incomitant strabismus” | “A type of incomitant strabismus in which the angle of deviation varies as the patient’s gaze shifts upwards and/or downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020043” | NA | “phenio_nodes” | “both” |
“HP:0020042” | “biolink:PhenotypicFeature” | “Double depressor palsy” | “An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020042” | NA | “phenio_nodes” | “both” |
“HP:0031622” | “biolink:PhenotypicFeature” | “Brown anomaly” | “An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.” | “Brown syndrome” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031622” | NA | “phenio_nodes” | “both” |
“HP:0020041” | “biolink:PhenotypicFeature” | “Double elevator palsy” | “A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020041” | NA | “phenio_nodes” | “both” |
“HP:0020044” | “biolink:PhenotypicFeature” | “Horizontal incomitant strabismus” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0020044” | NA | “phenio_nodes” | “both” |
“HP:0025589” | “biolink:PhenotypicFeature” | “Cyclodeviation” | “Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025589” | NA | “phenio_nodes” | “both” |
“HP:0031777” | “biolink:PhenotypicFeature” | “Cyclophoria” | “A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031777” | NA | “phenio_nodes” | “both” |
“HP:0031778” | “biolink:PhenotypicFeature” | “Incyclophoria” | “A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031778” | NA | “phenio_nodes” | “both” |
“HP:0031779” | “biolink:PhenotypicFeature” | “Excyclophoria” | “A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031779” | NA | “phenio_nodes” | “both” |
“HP:0025069” | “biolink:PhenotypicFeature” | “Concomitant strabismus” | “Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.” | “Comitant strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025069” | NA | “phenio_nodes” | “both” |
“HP:0025587” | “biolink:PhenotypicFeature” | “Hyperdeviation” | “A type of strabismus in which the visual axis of one eye is higher than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025587” | NA | “phenio_nodes” | “both” |
“HP:0025585” | “biolink:PhenotypicFeature” | “Hyperphoria” | “Tendency for the visual axis of one eye to be higher than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025585” | NA | “phenio_nodes” | “both” |
“HP:0500077” | “biolink:PhenotypicFeature” | “Alternating hyperphoria” | “A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500077” | NA | “phenio_nodes” | “both” |
“HP:0025588” | “biolink:PhenotypicFeature” | “Hypodeviation” | “A type of strabismus in which the visual axis of one eye is lower than that of the other.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025588” | NA | “phenio_nodes” | “both” |
“HP:0031725” | “biolink:PhenotypicFeature” | “Hypophoria” | “A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031725” | NA | “phenio_nodes” | “both” |
“HP:0500079” | “biolink:PhenotypicFeature” | “Alternating hypophoria” | “A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0500079” | NA | “phenio_nodes” | “both” |
“HP:0032011” | “biolink:PhenotypicFeature” | “Heterophoria” | “Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0032011” | NA | “phenio_nodes” | “both” |
“HP:0025312” | “biolink:PhenotypicFeature” | “Esophoria” | “A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0025312” | NA | “phenio_nodes” | “both” |
“HP:0031775” | “biolink:PhenotypicFeature” | “Neurogenic strabismus” | “An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.” | “Paralytic strabismus” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031775” | NA | “phenio_nodes” | “both” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “HP:0000738” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ec28353d-fee3-498f-b3db-3614e7d58cd7” | c(“biolink:Association”, “biolink:Entity”) |
3 | 2 | “HP:0006896” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:821bb47c-90a4-4bbd-9878-aee67f7bbce4” | c(“biolink:Association”, “biolink:Entity”) |
4 | 2 | “HP:0002519” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5dc954a4-6886-48a2-8227-6f1c828a8261” | c(“biolink:Association”, “biolink:Entity”) |
5 | 2 | “HP:0008765” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3da0826d-83e8-41ce-9d4a-31eb5ca56632” | c(“biolink:Association”, “biolink:Entity”) |
6 | 2 | “HP:0006803” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:588d17f2-cd18-41a1-87c2-f79d055df410” | c(“biolink:Association”, “biolink:Entity”) |
7 | 2 | “HP:0033694” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f2cd451e-ec74-4d09-8fab-47c33034ac8f” | c(“biolink:Association”, “biolink:Entity”) |
8 | 2 | “HP:0002367” | “biolink:subclass_of” | “HP:0000738” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9927fb91-15f8-4051-a739-9d3f442c918b” | c(“biolink:Association”, “biolink:Entity”) |
9 | 1 | “HP:0000709” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c2e030e7-3e24-480a-a8bc-3b0c766e9d79” | c(“biolink:Association”, “biolink:Entity”) |
10 | 9 | “HP:0001345” | “biolink:subclass_of” | “HP:0000709” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fc9433ff-4833-47bc-a813-2eb7464a31f5” | c(“biolink:Association”, “biolink:Entity”) |
11 | 9 | “HP:0000725” | “biolink:subclass_of” | “HP:0000709” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:05d8f41f-e303-4a85-a9e4-22f0b359ec7e” | c(“biolink:Association”, “biolink:Entity”) |
12 | 11 | “HP:0006932” | “biolink:subclass_of” | “HP:0000725” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e4409dc1-a71e-4af9-aa54-1b993d4ea78c” | c(“biolink:Association”, “biolink:Entity”) |
13 | 1 | “HP:0100753” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8d6edf5a-14d2-4c59-90e5-5310397b3143” | c(“biolink:Association”, “biolink:Entity”) |
14 | 1 | “HP:0000496” | “biolink:subclass_of” | “HP:0000708” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f95deeb4-467a-4ce2-9325-7955ecac464a” | c(“biolink:Association”, “biolink:Entity”) |
15 | 14 | “HP:0007941” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2cd098e2-f699-4703-8b30-1fe287294537” | c(“biolink:Association”, “biolink:Entity”) |
16 | 15 | “HP:0025721” | “biolink:subclass_of” | “HP:0007941” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ffa1d62f-d95f-47e4-b9eb-450ba647c478” | c(“biolink:Association”, “biolink:Entity”) |
17 | 15 | “HP:0025720” | “biolink:subclass_of” | “HP:0007941” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:bd90bad2-ac98-4c7e-9417-72e87c9ca8ba” | c(“biolink:Association”, “biolink:Entity”) |
18 | 14 | “HP:0000617” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:851ac639-e465-462c-9acb-ca68322c8a68” | c(“biolink:Association”, “biolink:Entity”) |
19 | 18 | “HP:0001152” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1cc3a68d-5ab4-44e5-a4e4-c8055f467ebc” | c(“biolink:Association”, “biolink:Entity”) |
20 | 19 | “HP:0007792” | “biolink:subclass_of” | “HP:0001152” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e30203b9-b819-4d60-be20-04acc6038168” | c(“biolink:Association”, “biolink:Entity”) |
21 | 19 | “HP:0007944” | “biolink:subclass_of” | “HP:0001152” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:752b4bea-5b0c-45ee-b08c-92e6ba6a3403” | c(“biolink:Association”, “biolink:Entity”) |
22 | 18 | “HP:0007772” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:ed4f655b-976a-489e-b75c-cb87f929fdc1” | c(“biolink:Association”, “biolink:Entity”) |
23 | 22 | “HP:0007179” | “biolink:subclass_of” | “HP:0007772” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0ad79ae9-b3db-472e-b73b-be8445838be2” | c(“biolink:Association”, “biolink:Entity”) |
24 | 22 | “HP:0001151” | “biolink:subclass_of” | “HP:0007772” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9f22fa8b-1510-4a97-b6c3-f1d06a14d457” | c(“biolink:Association”, “biolink:Entity”) |
25 | 18 | “HP:0008003” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:953d9f9e-2ee7-49c6-972b-fc9df206a0fe” | c(“biolink:Association”, “biolink:Entity”) |
26 | 18 | “HP:0007668” | “biolink:subclass_of” | “HP:0000617” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4551df30-a9b7-42a4-b81d-f3bad0ec16b3” | c(“biolink:Association”, “biolink:Entity”) |
27 | 14 | “HP:0025404” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:14452f2d-f881-4b3a-98c1-1fd8907b0949” | c(“biolink:Association”, “biolink:Entity”) |
28 | 27 | “HP:0025405” | “biolink:subclass_of” | “HP:0025404” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8c988f49-5bf4-47e2-b920-03ab7807a675” | c(“biolink:Association”, “biolink:Entity”) |
29 | 27 | “HP:0025549” | “biolink:subclass_of” | “HP:0025404” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:36faac0b-ede4-4271-906c-1c8561e1bddb” | c(“biolink:Association”, “biolink:Entity”) |
30 | 29 | “HP:0031769” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:39b695e1-ca3c-4a36-a8d2-6bed3f2b1459” | c(“biolink:Association”, “biolink:Entity”) |
31 | 29 | “HP:0031768” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f879f962-a6f2-40b1-ad84-381e4070c545” | c(“biolink:Association”, “biolink:Entity”) |
32 | 29 | “HP:0500072” | “biolink:subclass_of” | “HP:0025549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f3548dc0-cb74-4127-b84c-b9b9400e8896” | c(“biolink:Association”, “biolink:Entity”) |
33 | 14 | “HP:0000549” | “biolink:subclass_of” | “HP:0000496” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3194d14f-382f-4014-906e-7b5aa34354e5” | c(“biolink:Association”, “biolink:Entity”) |
34 | 33 | “HP:0000605” | “biolink:subclass_of” | “HP:0000549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:78685fdd-b61b-47ad-a36b-2ceb0b86ee3d” | c(“biolink:Association”, “biolink:Entity”) |
35 | 34 | “HP:0007817” | “biolink:subclass_of” | “HP:0000605” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f0601b99-fc36-4068-82c8-64a7bef44097” | c(“biolink:Association”, “biolink:Entity”) |
36 | 34 | “HP:0000511” | “biolink:subclass_of” | “HP:0000605” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:11cee6e3-3f48-4ccc-b235-a45951f5251a” | c(“biolink:Association”, “biolink:Entity”) |
37 | 36 | “HP:0025331” | “biolink:subclass_of” | “HP:0000511” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e00fba8b-5443-4541-b2a3-9aac7aae8e75” | c(“biolink:Association”, “biolink:Entity”) |
38 | 36 | “HP:0025330” | “biolink:subclass_of” | “HP:0000511” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5612b2a8-ab08-4572-ab0b-ed34c83c2d43” | c(“biolink:Association”, “biolink:Entity”) |
39 | 33 | “HP:0000486” | “biolink:subclass_of” | “HP:0000549” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:610a4507-877e-4b0e-b38f-b8f75f7a4e08” | c(“biolink:Association”, “biolink:Entity”) |
40 | 39 | “HP:0020049” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:03e31b35-03c1-4afa-97b3-b6a0095ed793” | c(“biolink:Association”, “biolink:Entity”) |
41 | 40 | “HP:0000577” | “biolink:subclass_of” | “HP:0020049” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:287503ec-c569-461a-8e8c-807b92453b47” | c(“biolink:Association”, “biolink:Entity”) |
42 | 41 | “HP:0031721” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fe944341-b4d2-41ad-8e3a-60bd5f2701e4” | c(“biolink:Association”, “biolink:Entity”) |
43 | 41 | “HP:0031714” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:93c36f63-ae1c-4be9-a228-f7d9d679b464” | c(“biolink:Association”, “biolink:Entity”) |
44 | 43 | “HP:0031720” | “biolink:subclass_of” | “HP:0031714” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6f202337-a386-4e8c-b53c-369cd09062e8” | c(“biolink:Association”, “biolink:Entity”) |
45 | 43 | “HP:0031719” | “biolink:subclass_of” | “HP:0031714” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:46eace7b-e6d4-4ba8-9fdc-7898b94c56de” | c(“biolink:Association”, “biolink:Entity”) |
46 | 41 | “HP:0031716” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6c1410b0-79a0-4c65-89c5-b0ff6a77e405” | c(“biolink:Association”, “biolink:Entity”) |
47 | 41 | “HP:0031715” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9b166755-abd3-4cc8-bbff-e3452e3afb70” | c(“biolink:Association”, “biolink:Entity”) |
48 | 41 | “HP:0031718” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5535f708-8a9d-4ec1-8972-7d9afe839d94” | c(“biolink:Association”, “biolink:Entity”) |
49 | 41 | “HP:0031713” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:08dd64a1-8ad6-4127-a23a-ed8e7af52cba” | c(“biolink:Association”, “biolink:Entity”) |
50 | 49 | “HP:0032009” | “biolink:subclass_of” | “HP:0031713” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a3e7dfe-8d5f-4bd8-a314-01fe64ec0b92” | c(“biolink:Association”, “biolink:Entity”) |
51 | 49 | “HP:0032010” | “biolink:subclass_of” | “HP:0031713” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0d3c2feb-e491-4177-a8c4-1f378e99ca2e” | c(“biolink:Association”, “biolink:Entity”) |
52 | 41 | “HP:0031717” | “biolink:subclass_of” | “HP:0000577” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:e5dcffa0-6ef9-40d5-91cd-10e6ad2b11e8” | c(“biolink:Association”, “biolink:Entity”) |
53 | 40 | “HP:0025313” | “biolink:subclass_of” | “HP:0020049” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:932954fe-7a68-4e8e-be55-eb2f5ff07b32” | c(“biolink:Association”, “biolink:Entity”) |
54 | 39 | “HP:0010877” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:88934cc6-55d0-4eb1-87fa-24ae5311d299” | c(“biolink:Association”, “biolink:Entity”) |
55 | 39 | “HP:0032012” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:76aa9b81-fdfc-43ea-9e35-32091132822a” | c(“biolink:Association”, “biolink:Entity”) |
56 | 55 | “HP:0000565” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9e89a668-97d0-4eba-aad7-ad83608d60c5” | c(“biolink:Association”, “biolink:Entity”) |
57 | 56 | “HP:0020046” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fbe6a8fb-786a-4e33-88db-7521f57b57b8” | c(“biolink:Association”, “biolink:Entity”) |
58 | 57 | “HP:0031766” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:bb518c83-32be-4f6c-998b-131c7b657665” | c(“biolink:Association”, “biolink:Entity”) |
59 | 57 | “HP:0031765” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:062350da-0a52-4f2a-89e6-7292a1f3b83b” | c(“biolink:Association”, “biolink:Entity”) |
60 | 57 | “HP:0031764” | “biolink:subclass_of” | “HP:0020046” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5a2fa63b-c571-4de8-a74d-456772d1eec5” | c(“biolink:Association”, “biolink:Entity”) |
61 | 56 | “HP:0031723” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1a75b0aa-91ac-4dbf-ad8f-ddb903f84d7a” | c(“biolink:Association”, “biolink:Entity”) |
62 | 56 | “HP:0031767” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:a2067d1c-dc49-4896-b3bd-3579e3cccd41” | c(“biolink:Association”, “biolink:Entity”) |
63 | 56 | “HP:0031760” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3f9bd91e-3f00-4e64-adc0-ba35155b7865” | c(“biolink:Association”, “biolink:Entity”) |
64 | 63 | “HP:0031759” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:23936215-ef01-4332-a8ba-f75afb8ce51d” | c(“biolink:Association”, “biolink:Entity”) |
65 | 63 | “HP:0031762” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:9010ba67-99c6-42e7-885a-b242c3e23f82” | c(“biolink:Association”, “biolink:Entity”) |
66 | 63 | “HP:0031722” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b4f3cbec-2379-4ecb-9f72-d6cef89927ec” | c(“biolink:Association”, “biolink:Entity”) |
67 | 63 | “HP:0031763” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4fe60939-52dc-49ab-a26d-43d9442fd64a” | c(“biolink:Association”, “biolink:Entity”) |
68 | 63 | “HP:0031761” | “biolink:subclass_of” | “HP:0031760” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:25852a5e-8a75-4905-865f-e18891d4fd15” | c(“biolink:Association”, “biolink:Entity”) |
69 | 56 | “HP:0001137” | “biolink:subclass_of” | “HP:0000565” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:04e862c9-71df-4013-aa97-cbd053e9f72c” | c(“biolink:Association”, “biolink:Entity”) |
70 | 55 | “HP:0025584” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a7f8cb3-380b-4369-918f-3cf27c76dda9” | c(“biolink:Association”, “biolink:Entity”) |
71 | 70 | “HP:0500078” | “biolink:subclass_of” | “HP:0025584” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2e760a28-74d3-44d7-9f04-e5a0f9e63da5” | c(“biolink:Association”, “biolink:Entity”) |
41 | 55 | “HP:0000577” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:de8739a7-b664-409c-92b8-ae0a0472b0b1” | c(“biolink:Association”, “biolink:Entity”) |
72 | 55 | “HP:0025586” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8a4f7bdc-0438-4bbb-a249-7ae0ea899de5” | c(“biolink:Association”, “biolink:Entity”) |
73 | 72 | “HP:0500076” | “biolink:subclass_of” | “HP:0025586” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0c9ac145-8946-4670-bcb1-35aeda7162ba” | c(“biolink:Association”, “biolink:Entity”) |
74 | 55 | “HP:0031776” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4d6c843d-e65f-4cf0-80b1-8620751e86ae” | c(“biolink:Association”, “biolink:Entity”) |
75 | 74 | “HP:0031727” | “biolink:subclass_of” | “HP:0031776” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:af7d7bf9-2892-4e32-9507-e6b677913dc0” | c(“biolink:Association”, “biolink:Entity”) |
76 | 74 | “HP:0031726” | “biolink:subclass_of” | “HP:0031776” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:1dd5d90b-9328-4ef7-9be8-2a45c287e71d” | c(“biolink:Association”, “biolink:Entity”) |
77 | 55 | “HP:0031724” | “biolink:subclass_of” | “HP:0032012” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:dec16090-61c1-46cd-8479-2faf5eeb4345” | c(“biolink:Association”, “biolink:Entity”) |
78 | 77 | “HP:0031781” | “biolink:subclass_of” | “HP:0031724” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:0ef71ded-0969-4d32-a1d5-06332503c694” | c(“biolink:Association”, “biolink:Entity”) |
79 | 77 | “HP:0031782” | “biolink:subclass_of” | “HP:0031724” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6ec67ed3-9a73-4c08-9de7-831c3f899d37” | c(“biolink:Association”, “biolink:Entity”) |
80 | 39 | “HP:0025068” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:51248dcd-7a49-4c17-83a1-21159fdd2801” | c(“biolink:Association”, “biolink:Entity”) |
81 | 80 | “HP:0009921” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b958c12e-05f6-4854-b8ec-c9225371586f” | c(“biolink:Association”, “biolink:Entity”) |
82 | 80 | “HP:0020043” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7798edaf-74d4-414a-b6cd-6e374a5e3a0d” | c(“biolink:Association”, “biolink:Entity”) |
83 | 80 | “HP:0020042” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:d724901b-b721-41c3-9ec8-fcd522d39ef4” | c(“biolink:Association”, “biolink:Entity”) |
84 | 80 | “HP:0031622” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4862176f-6e76-48c2-ae3d-2f9109585bd4” | c(“biolink:Association”, “biolink:Entity”) |
85 | 80 | “HP:0020041” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:18beb838-4df9-4124-ac6c-8eaa99b42910” | c(“biolink:Association”, “biolink:Entity”) |
86 | 80 | “HP:0020044” | “biolink:subclass_of” | “HP:0025068” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:74220b3c-e169-414d-b44c-0171c9e2baa7” | c(“biolink:Association”, “biolink:Entity”) |
87 | 39 | “HP:0025589” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:777691f8-55a3-4d9c-86fe-15a5dbe4486c” | c(“biolink:Association”, “biolink:Entity”) |
74 | 87 | “HP:0031776” | “biolink:subclass_of” | “HP:0025589” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3602cc93-62ff-468d-aebb-7197d838c0b9” | c(“biolink:Association”, “biolink:Entity”) |
88 | 87 | “HP:0031777” | “biolink:subclass_of” | “HP:0025589” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:63fed025-9805-4f7e-ba86-580a7fad4699” | c(“biolink:Association”, “biolink:Entity”) |
89 | 88 | “HP:0031778” | “biolink:subclass_of” | “HP:0031777” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:23eec70b-c374-4bef-b5af-da68bcc5a863” | c(“biolink:Association”, “biolink:Entity”) |
90 | 88 | “HP:0031779” | “biolink:subclass_of” | “HP:0031777” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fa82529a-7fce-450d-8791-4951a0698b3c” | c(“biolink:Association”, “biolink:Entity”) |
91 | 39 | “HP:0025069” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:2e90323f-1faa-4ad9-948d-c5bbc7afaee9” | c(“biolink:Association”, “biolink:Entity”) |
92 | 39 | “HP:0025587” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:fbb4c4f5-37b5-4256-a698-4ae70a99237c” | c(“biolink:Association”, “biolink:Entity”) |
72 | 92 | “HP:0025586” | “biolink:subclass_of” | “HP:0025587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:64d3e81d-b7cf-4d9c-aa85-1c61a574d0f3” | c(“biolink:Association”, “biolink:Entity”) |
93 | 92 | “HP:0025585” | “biolink:subclass_of” | “HP:0025587” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:7214fca8-86cc-4eef-a49b-62a8f74c0f0e” | c(“biolink:Association”, “biolink:Entity”) |
94 | 93 | “HP:0500077” | “biolink:subclass_of” | “HP:0025585” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:10edc0cd-35bc-43e7-8509-8a0e595e657f” | c(“biolink:Association”, “biolink:Entity”) |
95 | 39 | “HP:0025588” | “biolink:subclass_of” | “HP:0000486” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:6626ea27-25ec-4c73-9b05-b32b1e70b5fa” | c(“biolink:Association”, “biolink:Entity”) |
70 | 95 | “HP:0025584” | “biolink:subclass_of” | “HP:0025588” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c6dfd504-a181-42e6-8e6e-0c4a755e6f8e” | c(“biolink:Association”, “biolink:Entity”) |
96 | 95 | “HP:0031725” | “biolink:subclass_of” | “HP:0025588” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:5a88729e-5ffb-44ff-8f72-36f039108400” | c(“biolink:Association”, “biolink:Entity”) |
97 | 96 | “HP:0500079” | “biolink:subclass_of” | “HP:0031725” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:621e280e-23fa-4ed4-afeb-744c1b4143f2” | c(“biolink:Association”, “biolink:Entity”) |
Ok, 24 behavioral only, 97 mental only, 724 both.
Let’s join them back together (bringing in the labels we defined above). We’ll also grab the phenotypes associated with Alzheimers (along with the nodes for Alzheimers itself), then join the two together to bring in the label info. We’ll need to then cut this back down to just the nodes that are related to Alzheimers. Finally we’ll create a plot of Alzheimers phenotypes labeled by their type.
# combine the three sets above into a single table
all_behavioral_mental_phenos <- behavioral_only |>
graph_join(mental_only) |>
graph_join(behavioral_and_mental)
# alzheimers diseases and phenos
alz_phenos <- alz %>%
expand(result_categories = "biolink:PhenotypicFeature")
# all behavioral, mental, and alzheimers phenotypes, labeled
all_behavioral_mental_alz_phenos <- alz_phenos |>
graph_join(all_behavioral_mental_phenos) |>
mutate(type = ifelse(is.na(type), "other", type))
# finally, let's flush out the nodes that are not in the alz_phenos graph
alz_phenos_labeled <- all_behavioral_mental_alz_phenos |>
activate(nodes) |>
filter(id %in% nodes(alz_phenos)$id)
alz_phenos_labeled
id | pcategory | name | description | synonym (list) | category (list) | iri | xref (list) | provided_by (list) | type |
---|---|---|---|---|---|---|---|---|---|
“MONDO:0004975” | “biolink:Disease” | “Alzheimer disease” | “A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.” | c(“AD”, “Alzheimer dementia”, “Alzheimer disease”, “Alzheimer disease, familial”, “Alzheimer’s dementia”, “Alzheimer’s disease”, “Alzheimers dementia”, “Alzheimers disease”, “presenile and senile dementia”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0004975” | c(“DOID:10652”, “HP:0002511”, “ICD10CM:G30”, “ICD9:290.1”, “ICD9:331.0”, “MESH:D000544”, “NCIT:C2866”, “NIFSTD:birnlex_2092”, “Orphanet:238616”, “SCTID:142811000119104”, “UMLS:C0002395”) | “phenio_nodes” | “other” |
“MONDO:0014265” | “biolink:Disease” | “Alzheimer disease 18” | “Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.” | c(“AD18”, “ADAM10 Alzheimer disease”, “Alzheimer disease 18”, “Alzheimer disease 18, late-onset”, “Alzheimer disease 18, susceptibility to”, “Alzheimer disease caused by mutation in ADAM10”, “Alzheimer disease type 18”, “Alzheimer’s disease 18”, “Alzheimer’s disease type 18”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014265” | c(“DOID:0110050”, “OMIM:615590”, “UMLS:C3810041”) | “phenio_nodes” | “other” |
“MONDO:0014036” | “biolink:Disease” | “Alzheimer disease 17” | “An Alzheimer’s disease that is characterized by an associated with mutations in the gene TREM2.” | c(“AD17”, “Alzheimer disease 17”, “Alzheimer disease 17, late onset”, “Alzheimer disease 17, late-onset”, “Alzheimer’s disease 17”, “Alzheimer’s disease type 17”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014036” | c(“DOID:0110049”, “OMIM:615080”, “UMLS:C3554452”) | “phenio_nodes” | “other” |
“MONDO:0010422” | “biolink:Disease” | “Alzheimer disease 16” | “An Alzheimer’s disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.” | c(“AD16”, “Alzheimer disease 16”, “Alzheimer’s disease 16”, “Alzheimer’s disease type 16”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0010422” | c(“DOID:0110036”, “MESH:C567463”, “OMIM:300756”, “UMLS:C2677888”) | “phenio_nodes” | “other” |
“MONDO:0100087” | “biolink:Disease” | “familial Alzheimer disease” | “A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.” | c(“Alzheimer disease, familial”, “FAD”, “GARD:0000632”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0100087” | NA | “phenio_nodes” | “other” |
“MONDO:0007089” | “biolink:Disease” | “Alzheimer disease 2” | “An Alzheimer’s disease that is characterized by an association of the apolipoprotein E E4 allele.” | c(“AD2”, “Alzheimer disease 2”, “Alzheimer disease 2, late onset”, “Alzheimer disease 2, late-onset”, “Alzheimer disease associated with APOE E4”, “Alzheimer disease associated with APOE4”, “Alzheimer disease type 2”, “Alzheimer disease-2”, “Alzheimer’s disease 2”, “Alzheimer’s disease type 2”, “LOFAD”, “late onset Alzheimer disease”, “late onset familial Alzheimer disease”, “late-onset familial alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0007089” | c(“DOID:0110035”, “GARD:12799”, “MESH:C536595”, “OMIM:104310”, “UMLS:C1863051”) | “phenio_nodes” | “other” |
“MONDO:0015140” | “biolink:Disease” | “early-onset autosomal dominant Alzheimer disease” | “A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.” | c(“EOFAD”, “early-onset familial autosomal dominant Alzheimer disease”, “early-onset, autosomal dominant Alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0015140” | c(“GARD:12798”, “Orphanet:1020”) | “phenio_nodes” | “other” |
“MONDO:0011561” | “biolink:Disease” | “Alzheimer disease 6” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 10q24.” | c(“AD6”, “Alzheimer disease 6”, “Alzheimer disease 6, late onset”, “Alzheimer disease 6, late-onset”, “Alzheimer disease type 6”, “Alzheimer’s disease 6”, “Alzheimer’s disease type 6”, “plasma Beta-amyloid-42 level quantitative trait locus”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011561” | c(“DOID:0110038”, “GARD:16509”, “MESH:C565325”, “OMIM:605526”) | “phenio_nodes” | “other” |
“MONDO:0012631” | “biolink:Disease” | “Alzheimer disease 14” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 1q25.” | c(“AD14”, “Alzheimer disease 14”, “Alzheimer disease-14”, “Alzheimer’s disease 14”, “Alzheimer’s disease type 14”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012631” | c(“DOID:0110047”, “GARD:16518”, “MESH:C566999”, “OMIM:611154”, “UMLS:C1970144”) | “phenio_nodes” | “other” |
“MONDO:0011777” | “biolink:Disease” | “Alzheimer disease 8” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 20p12.2-q11.21.” | c(“AD8”, “Ad8”, “Alzheimer disease 8”, “Alzheimer disease type 8”, “Alzheimer disease, familial 8”, “Alzheimer disease, familial, 8”, “Alzheimer’s disease 8”, “Alzheimer’s disease type 8”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011777” | c(“DOID:0110041”, “GARD:16512”, “MESH:C564622”, “OMIM:607116”, “UMLS:C1846735”) | “phenio_nodes” | “other” |
“MONDO:0011194” | “biolink:Disease” | “Alzheimer disease 5” | NA | c(“AD5”, “Ad5”, “Alzheimer disease 5”, “Alzheimer disease type 5”, “Alzheimer disease, familial 5”, “Alzheimer disease, familial, 5”, “Alzheimer disease-5”, “Alzheimer’s disease 5”, “Alzheimer’s disease type 5”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011194” | c(“DOID:0110037”, “GARD:16507”, “MESH:C566578”, “OMIM:602096”, “UMLS:C1865868”) | “phenio_nodes” | “other” |
“MONDO:0012630” | “biolink:Disease” | “Alzheimer disease 13” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 1q21.” | c(“AD13”, “Alzheimer disease 13”, “Alzheimer disease-13”, “Alzheimer’s disease 13”, “Alzheimer’s disease type 13”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012630” | c(“DOID:0110046”, “GARD:16517”, “MESH:C567000”, “OMIM:611152”, “UMLS:C1970147”) | “phenio_nodes” | “other” |
“MONDO:0011401” | “biolink:Disease” | “Alzheimer disease without neurofibrillary tangles” | NA | c(“AD15”, “Alzheimer disease 15”, “Alzheimer disease without neurofibrillary tangles”, “Alzheimer disease-15”, “Alzheimer’s disease 15”, “Alzheimer’s disease type 15”, “Alzheimer’s disease without neurofibrillary tangles”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011401” | c(“DOID:0110048”, “GARD:7190”, “MESH:C536599”, “MESH:C566998”, “OMIM:604154”, “OMIM:611155”, “UMLS:C1858751”) | “phenio_nodes” | “other” |
“MONDO:0012344” | “biolink:Disease” | “Alzheimer disease 11” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 9p22.1.” | c(“AD11”, “Ad11”, “Alzheimer disease 11”, “Alzheimer disease type 11”, “Alzheimer disease, familial, 11”, “Alzheimer disease-11”, “Alzheimer’s disease 11”, “Alzheimer’s disease type 11”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012344” | c(“DOID:0110044”, “GARD:16515”, “MESH:C565228”, “OMIM:609790”, “UMLS:C1853360”) | “phenio_nodes” | “other” |
“MONDO:0011513” | “biolink:Disease” | “Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology” | NA | “Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology” | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011513” | c(“GARD:16508”, “MESH:C565728”, “OMIM:605055”, “UMLS:C1857933”) | “phenio_nodes” | “other” |
“MONDO:0011913” | “biolink:Disease” | “Alzheimer disease 3” | “Alzheimer’s disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.” | c(“AD”, “AD3”, “Alzheimer disease 3”, “Alzheimer disease 3, early onset”, “Alzheimer disease 3, early-onset”, “Alzheimer disease early onset type 3”, “Alzheimer disease familial 3”, “Alzheimer disease type 3”, “Alzheimer disease, familial, 3”, “Alzheimer disease, familial, 3, with spastic paraparesis and apraxia”, “Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques”, “Alzheimer disease, protection against, due to APOE3-Christchurch”, “Alzheimer disease, type 3”, “Alzheimer disease, type 3, with spastic paraparesis and apraxia”, “Alzheimer disease, type 3, with spastic paraparesis and unusual plaques”, “Alzheimer’s disease 3”, “Alzheimer’s disease type 3”, “PSEN1 early-onset autosomal dominant Alzheimer disease”, “early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1”, “familial Alzheimer disease, type 3”, “familial Alzheimer’s disease, type 3”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011913” | c(“DOID:0110042”, “GARD:16513”, “MESH:C536598”, “NCIT:C123412”, “OMIM:607822”) | “phenio_nodes” | “other” |
“MONDO:0011743” | “biolink:Disease” | “Alzheimer disease 4” | “Alzheimer’s disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.” | c(“AD4”, “Ad4”, “Alzheimer disease 4”, “Alzheimer disease familial type 4”, “Alzheimer disease type 4”, “Alzheimer disease, familial, 4”, “Alzheimer disease, familial4”, “Alzheimer disease-4”, “Alzheimer’s disease 4”, “Alzheimer’s disease type 4”, “familial Alzheimer disease, type 4”, “familial Alzheimer’s disease, type 4”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011743” | c(“DOID:0110040”, “GARD:16511”, “MESH:C536596”, “NCIT:C123413”, “OMIM:606889”, “UMLS:C1847200”) | “phenio_nodes” | “other” |
“MONDO:0007088” | “biolink:Disease” | “Alzheimer disease type 1” | NA | c(“AD”, “AD1”, “Alzheimer disease”, “Alzheimer disease 1”, “Alzheimer disease 1, familial”, “Alzheimer disease, early-onset, with cerebral amyloid angiopathy”, “Alzheimer disease, familial, 1”, “Alzheimer disease, late-onset, susceptibility to”, “Alzheimer disease, protection against”, “Alzheimer disease, susceptibility to”, “early-onset familial form of Alzheimer disease”, “presenile and senile dementia”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0007088” | c(“DECIPHER:48”, “DOID:0080348”, “GARD:9465”, “MESH:C536594”, “OMIM:104300”, “UMLS:C1863052”) | “phenio_nodes” | “other” |
“MONDO:0012321” | “biolink:Disease” | “Alzheimer disease 10” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 7q36.” | c(“AD10”, “Ad10”, “Alzheimer disease 10”, “Alzheimer disease familial 10”, “Alzheimer disease type 10”, “Alzheimer disease, familial, 10”, “Alzheimer disease-10”, “Alzheimer’s disease 10”, “Alzheimer’s disease type 10”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012321” | c(“DOID:0110043”, “GARD:16514”, “MESH:C566465”, “OMIM:609636”, “UMLS:C1864828”) | “phenio_nodes” | “other” |
“MONDO:0011647” | “biolink:Disease” | “Alzheimer disease 7” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 10p13.” | c(“AD7”, “Ad7”, “Alzheimer disease 7”, “Alzheimer disease type 7”, “Alzheimer disease, familial 7”, “Alzheimer disease, familial, 7”, “Alzheimer disease-7”, “Alzheimer’s disease 7”, “Alzheimer’s disease type 7”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0011647” | c(“DOID:0110039”, “GARD:16510”, “MESH:C565251”, “OMIM:606187”, “UMLS:C1853555”) | “phenio_nodes” | “other” |
“MONDO:0012609” | “biolink:Disease” | “Alzheimer disease 12” | “An Alzheimer’s disease that is characterized by an associated with variation in the region 8p12-q22.” | c(“AD12”, “Ad12”, “Alzheimer disease 12”, “Alzheimer disease familial 12”, “Alzheimer disease type 12”, “Alzheimer disease, familial, 12”, “Alzheimer’s disease 12”, “Alzheimer’s disease type 12”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0012609” | c(“DOID:0110045”, “GARD:16516”, “MESH:C567022”, “OMIM:611073”, “UMLS:C1970209”) | “phenio_nodes” | “other” |
“MONDO:0014316” | “biolink:Disease” | “Alzheimer disease 19” | “Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.” | c(“AD19”, “Alzheimer disease 19”, “Alzheimer disease 19 late onset”, “Alzheimer disease 19, late-onset”, “Alzheimer disease caused by mutation in PLD3”, “Alzheimer disease type 19”, “Alzheimer’s disease 19”, “Alzheimer’s disease type 19”, “PLD3 Alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:Disease”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/MONDO_0014316” | c(“DOID:0110051”, “OMIM:615711”, “UMLS:C3810349”) | “phenio_nodes” | “other” |
“HP:0002185” | “biolink:PhenotypicFeature” | “Neurofibrillary tangles” | “Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.” | c(“Neurofibrillary tangles composed of disordered microtubules in neurons”, “Paired helical filaments”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002185” | c(“MSH:D016874”, “SNOMEDCT_US:85775002”, “UMLS:C0085400”) | “phenio_nodes” | “other” |
“HP:0410054” | “biolink:PhenotypicFeature” | “Decreased circulating GABA concentration” | “A decrease in the level of GABA in the serum.” | c(“Decreased circulating gamma-aminobutyric acid concentration”, “Decreased level of gamma-aminobutyric acid in serum”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0410054” | NA | “phenio_nodes” | “other” |
“HP:0000726” | “biolink:PhenotypicFeature” | “Dementia” | “A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.” | c(“Dementia”, “Dementia, progressive”, “Progressive dementia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000726” | c(“MSH:D003704”, “SNOMEDCT_US:52448006”, “UMLS:C0497327”) | “phenio_nodes” | “mental” |
“HP:0001300” | “biolink:PhenotypicFeature” | “Parkinsonism” | “Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.” | “Parkinsonian disease” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001300” | c(“MSH:D020734”, “SNOMEDCT_US:32798002”, “UMLS:C0242422”) | “phenio_nodes” | “other” |
“HP:0002423” | “biolink:PhenotypicFeature” | “Long-tract signs” | “Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.” | “Long tract signs” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002423” | “UMLS:C1865903” | “phenio_nodes” | “other” |
“HP:0002511” | “biolink:PhenotypicFeature” | “Alzheimer disease” | “A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.” | c(“Alzheimer disease”, “Late-onset form of familial Alzheimer disease”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002511” | c(“DOID:10652”, “MONDO:0004975”, “MSH:C536595”, “MSH:D000544”, “SNOMEDCT_US:230267005”, “SNOMEDCT_US:26929004”, “UMLS:C0002395”, “UMLS:C1863051”) | “phenio_nodes” | “other” |
“HP:0000006” | “biolink:PhenotypicFeature” | “Autosomal dominant inheritance” | “A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.” | c(“Autosomal dominant”, “Autosomal dominant form”, “Autosomal dominant type”, “monoallelic_autosomal”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000006” | c(“SNOMEDCT_US:263681008”, “UMLS:C0443147”) | “phenio_nodes” | “other” |
“HP:0002186” | “biolink:PhenotypicFeature” | “Apraxia” | “A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.” | “Apraxias” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002186” | c(“MSH:D001072”, “SNOMEDCT_US:68345001”, “SNOMEDCT_US:6950007”, “UMLS:C0003635”) | “phenio_nodes” | “mental” |
“HP:0100543” | “biolink:PhenotypicFeature” | “Cognitive impairment” | “Abnormal cognition with deficits in thinking, reasoning, or remembering.” | c(“Abnormality of cognition”, “Cognitive abnormality”, “Cognitive defects”, “Cognitive deficits”, “Cognitive impairment”, “Intellectual impairment”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0100543” | c(“MSH:D060825”, “SNOMEDCT_US:386806002”, “UMLS:C0338656”, “UMLS:C0683322”) | “phenio_nodes” | “mental” |
“HP:0100256” | “biolink:PhenotypicFeature” | “Senile plaques” | “Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.” | c(“Braindruse”, “Neuritic plaques”, “Senile druse”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0100256” | c(“MSH:D058225”, “SNOMEDCT_US:38551001”, “UMLS:C0333463”) | “phenio_nodes” | “other” |
“HP:0006979” | “biolink:PhenotypicFeature” | “Sleep-wake cycle disturbance” | “Any abnormal alteration of an individual’s circadian rhythm that affects the timing of sleeping and being awake.” | “Sleep-wake cycle disturbance” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006979” | “UMLS:C1833362” | “phenio_nodes” | “both” |
“HP:0002354” | “biolink:PhenotypicFeature” | “Memory impairment” | “An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.” | c(“Forgetfulness”, “Memory impairment”, “Memory loss”, “Memory problems”, “Poor memory”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002354” | c(“MSH:D008569”, “SNOMEDCT_US:386807006”, “SNOMEDCT_US:55533009”, “UMLS:C0233794”, “UMLS:C0542476”, “UMLS:C0751295”) | “phenio_nodes” | “mental” |
“HP:0011970” | “biolink:PhenotypicFeature” | “Cerebral amyloid angiopathy” | “Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011970” | c(“MSH:D016657”, “SNOMEDCT_US:230724001”, “UMLS:C0085220”) | “phenio_nodes” | “other” |
“HP:0012662” | “biolink:PhenotypicFeature” | “Parietal hypometabolism in FDG PET” | “Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0012662” | “UMLS:C4022794” | “phenio_nodes” | “other” |
“HP:0002071” | “biolink:PhenotypicFeature” | “Abnormality of extrapyramidal motor function” | “A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).” | c(“Extrapyramidal dysfunction”, “Extrapyramidal signs”, “Extrapyramidal symptoms”, “Extrapyramidal syndrome”, “Extrapyramidal tract signs”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002071” | c(“MSH:D001480”, “SNOMEDCT_US:43378000”, “SNOMEDCT_US:76349003”, “UMLS:C0015371”, “UMLS:C0234133”) | “phenio_nodes” | “other” |
“HP:0001336” | “biolink:PhenotypicFeature” | “Myoclonus” | “Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.” | c(“Involuntary jerking movements”, “Jerking”, “Myoclonic jerks”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001336” | c(“MSH:D009207”, “SNOMEDCT_US:127324008”, “SNOMEDCT_US:17450006”, “UMLS:C0027066”, “UMLS:C1854302”) | “phenio_nodes” | “both” |
“HP:0001288” | “biolink:PhenotypicFeature” | “Gait disturbance” | “The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.” | c(“Abnormal gait”, “Abnormal walk”, “Gait abnormalities”, “Gait difficulties”, “Gait disturbances”, “Impaired gait”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001288” | c(“SNOMEDCT_US:22325002”, “UMLS:C0575081”) | “phenio_nodes” | “both” |
“HP:0002395” | “biolink:PhenotypicFeature” | “Lower limb hyperreflexia” | NA | c(“Brisk lower extremity reflexes”, “Hyperreflexia in lower limbs”, “Hyperreflexia in the lower limbs”, “Increased deep tendon reflexes in the lower limbs”, “Leg hyperreflexia”, “Overactive lower leg reflex”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002395” | “UMLS:C1836696” | “phenio_nodes” | “both” |
“HP:0010524” | “biolink:PhenotypicFeature” | “Agnosia” | “Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010524” | c(“MSH:D000377”, “SNOMEDCT_US:42341009”, “UMLS:C0001816”) | “phenio_nodes” | “mental” |
“HP:0001260” | “biolink:PhenotypicFeature” | “Dysarthria” | “Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.” | c(“Difficulty articulating speech”, “Dysarthric speech”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001260” | c(“MSH:D004401”, “SNOMEDCT_US:8011004”, “UMLS:C0013362”) | “phenio_nodes” | “mental” |
“HP:0002015” | “biolink:PhenotypicFeature” | “Dysphagia” | “Difficulty in swallowing.” | c(“Deglutition disorder”, “Difficulty swallowing”, “Poor swallowing”, “Swallowing difficulties”, “Swallowing difficulty”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002015” | c(“MEDDRA:10013950”, “MSH:D003680”, “SNOMEDCT_US:288939007”, “SNOMEDCT_US:40739000”, “UMLS:C0011168”) | “phenio_nodes” | “other” |
“HP:0002120” | “biolink:PhenotypicFeature” | “Cerebral cortical atrophy” | “Atrophy of the cortex of the cerebrum.” | c(“Cerebral cortex atrophy”, “Cortical atrophy”, “Decrease in size of the outer layer of the brain due to loss of brain cells”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002120” | c(“SNOMEDCT_US:278849000”, “UMLS:C0235946”) | “phenio_nodes” | “other” |
“HP:0001250” | “biolink:PhenotypicFeature” | “Seizure” | “A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.” | c(“Epilepsy”, “Epileptic seizure”, “Seizures”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001250” | c(“MSH:D004827”, “MSH:D012640”, “SNOMEDCT_US:128613002”, “SNOMEDCT_US:246545002”, “SNOMEDCT_US:313307000”, “SNOMEDCT_US:84757009”, “SNOMEDCT_US:91175000”, “UMLS:C0014544”, “UMLS:C0036572”) | “phenio_nodes” | “other” |
“HP:0000751” | “biolink:PhenotypicFeature” | “Personality changes” | “An abnormal shift in patterns of thinking, acting, or feeling.” | c(“Personality change”, “Personality changes”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000751” | c(“SNOMEDCT_US:102943000”, “SNOMEDCT_US:192073007”, “UMLS:C0240735”) | “phenio_nodes” | “both” |
“HP:0003487” | “biolink:PhenotypicFeature” | “Babinski sign” | “Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.” | c(“Extensor plantar reflexes”, “Extensor plantar response”, “Extensor plantar responses”, “Positive Babinski sign”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0003487” | c(“SNOMEDCT_US:246586009”, “SNOMEDCT_US:366575004”, “UMLS:C0034935”) | “phenio_nodes” | “both” |
“HP:0001285” | “biolink:PhenotypicFeature” | “Spastic tetraparesis” | “Spastic weakness affecting all four limbs.” | “Spastic quadriparesis” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001285” | c(“SNOMEDCT_US:298282001”, “UMLS:C0575059”) | “phenio_nodes” | “other” |
“HP:0001332” | “biolink:PhenotypicFeature” | “Dystonia” | “An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.” | c(“Dystonic disease”, “Dystonic movements”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001332” | c(“MSH:D004421”, “UMLS:C0013421”, “UMLS:C4020871”) | “phenio_nodes” | “both” |
“HP:0031868” | “biolink:PhenotypicFeature” | “Optic ataxia” | “Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0031868” | NA | “phenio_nodes” | “mental” |
“HP:0010525” | “biolink:PhenotypicFeature” | “Finger agnosia” | “An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010525” | c(“MSH:D000377”, “SNOMEDCT_US:3449007”, “UMLS:C0234509”) | “phenio_nodes” | “mental” |
“HP:0003791” | “biolink:PhenotypicFeature” | “Deposits immunoreactive to beta-amyloid protein” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0003791” | “UMLS:C1853934” | “phenio_nodes” | “other” |
“HP:0012759” | “biolink:PhenotypicFeature” | “Neurodevelopmental abnormality” | “A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0012759” | “UMLS:C4022737” | “phenio_nodes” | “other” |
“HP:0012433” | “biolink:PhenotypicFeature” | “Abnormal social behavior” | “An abnormality of actions or reactions of a person taking place during interactions with others.” | c(“Abnormal social behavior”, “Abnormal social behaviour”, “Abnormal social interactions”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0012433” | c(“UMLS:C4020726”, “UMLS:C4021087”) | “phenio_nodes” | “both” |
“HP:0000657” | “biolink:PhenotypicFeature” | “Oculomotor apraxia” | “Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.” | c(“Defective or absent horizontal voluntary eye movements”, “Ocular motor apraxia”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000657” | c(“MSH:C537423”, “SNOMEDCT_US:193662007”, “UMLS:C3489733”, “UMLS:C4020886”) | “phenio_nodes” | “both” |
“HP:0010526” | “biolink:PhenotypicFeature” | “Dysgraphia” | “A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0010526” | c(“MSH:D000381”, “SNOMEDCT_US:88278002”, “UMLS:C0234144”) | “phenio_nodes” | “mental” |
“HP:0001251” | “biolink:PhenotypicFeature” | “Ataxia” | “Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).” | “Cerebellar ataxia” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001251” | c(“MSH:D002524”, “SNOMEDCT_US:85102008”, “UMLS:C0007758”) | “phenio_nodes” | “both” |
“HP:0000738” | “biolink:PhenotypicFeature” | “Hallucinations” | “Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.” | c(“Hallucination”, “Hallucinations”, “Sensory hallucination”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000738” | c(“MSH:D006212”, “SNOMEDCT_US:7011001”, “UMLS:C0018524”, “UMLS:C0235153”) | “phenio_nodes” | “both” |
“HP:0000734” | “biolink:PhenotypicFeature” | “Disinhibition” | “Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000734” | c(“SNOMEDCT_US:247977003”, “UMLS:C0424296”) | “phenio_nodes” | “both” |
“HP:0001276” | “biolink:PhenotypicFeature” | “Hypertonia” | “A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.” | c(“Hypertonicity”, “Increased muscle tone”, “Muscle hypertonia”, “Spasticity and rigidity of muscles”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001276” | c(“MSH:D009122”, “SNOMEDCT_US:41581000”, “SNOMEDCT_US:56731001”, “UMLS:C0026826”) | “phenio_nodes” | “other” |
“HP:0001289” | “biolink:PhenotypicFeature” | “Confusion” | “Lack of clarity and coherence of thought, perception, understanding, or action.” | c(“Confusion”, “Disorientation”, “Easily confused”, “Mental disorientation”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001289” | c(“MSH:D003221”, “SNOMEDCT_US:286933003”, “UMLS:C0009676”) | “phenio_nodes” | “mental” |
“HP:0001249” | “biolink:PhenotypicFeature” | “Intellectual disability” | “Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.” | c(“Dull intelligence”, “Intellectual disability”, “Low intelligence”, “Mental deficiency”, “Mental retardation”, “Mental retardation, nonspecific”, “Mental-retardation”, “Nonprogressive intellectual disability”, “Nonprogressive mental retardation”, “Poor school performance”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0001249” | c(“MSH:D008607”, “SNOMEDCT_US:228156007”, “SNOMEDCT_US:247578003”, “SNOMEDCT_US:91138005”, “UMLS:C0025362”, “UMLS:C0423903”, “UMLS:C0917816”, “UMLS:C1843367”, “UMLS:C3714756”, “UMLS:C4020876”) | “phenio_nodes” | “mental” |
“HP:0002463” | “biolink:PhenotypicFeature” | “Language impairment” | “Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.” | “Language disorder” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002463” | c(“MSH:D007806”, “SNOMEDCT_US:62305002”, “UMLS:C0023015”) | “phenio_nodes” | “both” |
“HP:0000713” | “biolink:PhenotypicFeature” | “Agitation” | “A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000713” | c(“SNOMEDCT_US:24199005”, “UMLS:C0085631”) | “phenio_nodes” | “both” |
“HP:0002381” | “biolink:PhenotypicFeature” | “Aphasia” | “An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.” | c(“Difficulty finding words”, “Losing words”, “Loss of words”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002381” | c(“MSH:D001037”, “SNOMEDCT_US:87486003”, “UMLS:C0003537”) | “phenio_nodes” | “mental” |
“HP:0011446” | “biolink:PhenotypicFeature” | “Abnormality of mental function” | “Cognitive, psychiatric, or memory anomaly.” | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0011446” | “UMLS:C4023352” | “phenio_nodes” | “mental” |
“HP:0000504” | “biolink:PhenotypicFeature” | “Abnormality of vision” | “Abnormality of eyesight (visual perception).” | c(“Abnormality of sight”, “Abnormality of vision”, “Vision issue”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0000504” | “UMLS:C4025846” | “phenio_nodes” | “other” |
“HP:0030219” | “biolink:PhenotypicFeature” | “Semantic dementia” | “A progressive loss of the ability to remember the meaning of words, faces and objects.” | “Trouble remembering words” | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0030219” | c(“MSH:D057180”, “SNOMEDCT_US:230288001”, “UMLS:C0338462”) | “phenio_nodes” | “mental” |
“HP:0006790” | “biolink:PhenotypicFeature” | “Cerebral cortex with spongiform changes” | NA | NA | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0006790” | “UMLS:C1857934” | “phenio_nodes” | “other” |
“HP:0002167” | “biolink:PhenotypicFeature” | “Abnormality of speech or vocalization” | “Abnormalities in the sound of a person’s speech or vocalization not necessarily associated with a known physical cause or due to stuttering or stammering.” | c(“Abnormal speech”, “Abnormal vocalisation”, “Abnormal vocalization”) | c(“biolink:BiologicalEntity”, “biolink:DiseaseOrPhenotypicFeature”, “biolink:Entity”, “biolink:NamedThing”, “biolink:PhenotypicFeature”, “biolink:ThingWithTaxon”) | “http://purl.obolibrary.org/obo/HP_0002167” | c(“MSH:D013064”, “UMLS:C0037822”) | “phenio_nodes” | “mental” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) | original_subject | has_evidence (list) | publications (list) | has_total | has_quotient | has_count | has_percentage | onset_qualifier | frequency_qualifier |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 1 | “MONDO:0014265” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:d2d2475a-e0d3-420d-8443-d6fa723024ef” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
3 | 1 | “MONDO:0014036” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:e80e1092-3d6c-4166-a714-61d12c5caec3” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
4 | 1 | “MONDO:0010422” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:67b0b9ad-74a8-4741-b78e-52df1eca4f9a” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
5 | 1 | “MONDO:0100087” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:82f918cc-661e-4796-bd8d-907636fe574d” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
6 | 5 | “MONDO:0007089” | “biolink:subclass_of” | “MONDO:0100087” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:93b5b831-991b-45e0-836d-f041b2eba5bf” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
7 | 5 | “MONDO:0015140” | “biolink:subclass_of” | “MONDO:0100087” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:cb934996-2fda-44ad-92ba-fdd281cd36ed” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
8 | 7 | “MONDO:0011561” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:39820122-6d69-4e35-99f3-e0dceeed27e8” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
9 | 7 | “MONDO:0012631” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:6e7f8e43-2b59-4b98-8edb-9359aa540567” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
10 | 7 | “MONDO:0011777” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:e8b7556e-dbfb-4ba6-8fc6-7d511dfbd073” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
11 | 7 | “MONDO:0011194” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:02314a7a-c5fe-4b09-9f38-de1e164a8854” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
12 | 7 | “MONDO:0012630” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:e67bc0ca-a0b1-4885-b4ee-1a180a06a9d3” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
13 | 7 | “MONDO:0011401” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:1961154e-7587-4925-8813-1eeb4397c3bd” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
14 | 7 | “MONDO:0012344” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:ec9e2531-6d96-4fc5-8cf5-2e94f98ada0d” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
15 | 7 | “MONDO:0011513” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:f6ac44ec-9166-47ed-898a-fc3dd5513d32” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
16 | 7 | “MONDO:0011913” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:702ab7dc-d974-42a4-82f2-92055ded402a” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
17 | 7 | “MONDO:0011743” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:08543c6c-4e06-4f75-b2ce-e4e037c2b4bf” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
18 | 7 | “MONDO:0007088” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:0fbdcc9d-e3e0-4080-9db9-6db1d50a7593” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
19 | 7 | “MONDO:0012321” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:4893dbb6-8831-429d-bd42-1c09d8ffeb30” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
20 | 7 | “MONDO:0011647” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:4beca5c8-3e5b-4ef8-9597-f5ce8e6ec54b” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
21 | 7 | “MONDO:0012609” | “biolink:subclass_of” | “MONDO:0015140” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:df37358a-39de-44e4-ab2f-b6a8ff54889b” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
22 | 1 | “MONDO:0014316” | “biolink:subclass_of” | “MONDO:0004975” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:mondo” | “phenio_edges” | “urn:uuid:8fbb9c58-fcb7-4d47-8233-ee67562ec84a” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
18 | 23 | “MONDO:0007088” | “biolink:has_phenotype” | “HP:0002185” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:085e9f26-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104300” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
18 | 24 | “MONDO:0007088” | “biolink:has_phenotype” | “HP:0410054” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:085e9f27-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104300” | “ECO:0000269” | “PMID:17031479” | NA | NA | NA | NA | NA | NA |
18 | 25 | “MONDO:0007088” | “biolink:has_phenotype” | “HP:0000726” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:085e9f25-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104300” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
18 | 26 | “MONDO:0007088” | “biolink:has_phenotype” | “HP:0001300” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:085e9f24-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104300” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
18 | 27 | “MONDO:0007088” | “biolink:has_phenotype” | “HP:0002423” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:085e9f28-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104300” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
18 | 28 | “MONDO:0007088” | “biolink:has_phenotype” | “HP:0002511” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:085e9f29-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104300” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
18 | 29 | “MONDO:0007088” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:4ffb1274-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:104300” | “ECO:0000304” | “OMIM:104300” | NA | NA | NA | NA | NA | NA |
17 | 30 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0002186” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727415-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:9007102” | “5” | “0.4” | “2” | “40.0” | “HP:0003596” | NA |
17 | 25 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0000726” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727416-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:9007102” | “5” | “0.6” | “3” | “60.0” | “HP:0003596” | NA |
17 | 31 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0100543” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727410-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:19073399” | NA | NA | NA | NA | NA | NA |
17 | 32 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0100256” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727418-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:9450781” | NA | NA | NA | NA | NA | NA |
17 | 33 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0006979” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b72740f-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
17 | 34 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0002354” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727414-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:9007102” | “5” | “0.4” | “2” | “40.0” | “HP:0003596” | NA |
17 | 23 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0002185” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727417-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:9450781” | NA | NA | NA | NA | NA | NA |
17 | 35 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0011970” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727413-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:9450781” | “4” | “1.0” | “4” | “100.0” | “HP:0003584” | NA |
17 | 28 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0002511” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727419-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
17 | 36 | “MONDO:0011743” | “biolink:has_phenotype” | “HP:0012662” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b727411-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:606889” | “ECO:0000269” | “PMID:19073399” | NA | NA | NA | NA | NA | NA |
17 | 29 | “MONDO:0011743” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:50635d44-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:606889” | “ECO:0000269” | “PMID:9007102” | NA | NA | NA | NA | NA | NA |
6 | 26 | “MONDO:0007089” | “biolink:has_phenotype” | “HP:0001300” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:091cf90a-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104310” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
6 | 28 | “MONDO:0007089” | “biolink:has_phenotype” | “HP:0002511” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:091cf90e-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104310” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | NA |
6 | 27 | “MONDO:0007089” | “biolink:has_phenotype” | “HP:0002423” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:091cf90d-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104310” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
6 | 23 | “MONDO:0007089” | “biolink:has_phenotype” | “HP:0002185” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:091cf90c-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104310” | “ECO:0000304” | NA | “20” | “1.0” | “20” | “100.0” | NA | NA |
6 | 25 | “MONDO:0007089” | “biolink:has_phenotype” | “HP:0000726” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:091cf90b-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:104310” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
6 | 29 | “MONDO:0007089” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:50148046-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:104310” | “ECO:0000304” | “OMIM:104310” | NA | NA | NA | NA | NA | NA |
16 | 29 | “MONDO:0011913” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:50635cea-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:607822” | “ECO:0000501” | “OMIM:607822” | NA | NA | NA | NA | NA | NA |
16 | 37 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002071” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe43-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 30 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002186” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe3e-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 38 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0001336” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe48-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 39 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0001288” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe38-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 25 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0000726” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe45-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 40 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002395” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe3f-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 41 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0010524” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe44-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
16 | 42 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0001260” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe40-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 43 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002015” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe36-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 44 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002120” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe3d-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 45 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0001250” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe3c-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 46 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0000751” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe46-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 47 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0003487” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe3b-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 48 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0001285” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe41-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 34 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002354” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe3a-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 49 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0001332” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe39-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 50 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0031868” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe37-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
16 | 28 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002511” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe47-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | “HP:0003593” | NA |
16 | 23 | “MONDO:0011913” | “biolink:has_phenotype” | “HP:0002185” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0b58fe42-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:607822” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
7 | 51 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0010525” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a0f-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 52 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0003791” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a05-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 26 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001300” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29ff-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 53 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0012759” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a07-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 54 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0012433” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a06-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 55 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0000657” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a0a-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 23 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0002185” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a02-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 56 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0010526” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a10-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 57 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001251” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a0c-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 58 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0000738” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29fb-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 59 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0000734” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a08-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040282” |
7 | 34 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0002354” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a03-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 30 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0002186” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a0d-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 44 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0002120” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a01-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 60 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001276” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29fd-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 61 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001289” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29fe-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 62 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001249” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a0b-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 63 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0002463” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a04-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 64 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0000713” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29f9-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 38 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001336” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a00-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 45 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0001250” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29fc-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 65 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0002381” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a0e-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 25 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0000726” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b29fa-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040281” |
7 | 66 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0011446” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a11-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 67 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0000504” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a09-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
7 | 68 | “MONDO:0015140” | “biolink:has_phenotype” | “HP:0030219” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:102b2a12-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “Orphanet:1020” | “ECO:0000304” | NA | NA | NA | NA | NA | NA | “HP:0040283” |
11 | 29 | “MONDO:0011194” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:5048d2c5-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:602096” | “ECO:0000501” | “OMIM:602096” | NA | NA | NA | NA | NA | NA |
11 | 28 | “MONDO:0011194” | “biolink:has_phenotype” | “HP:0002511” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0af2d6e5-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:602096” | “ECO:0000304” | NA | NA | NA | NA | NA | “HP:0003584” | NA |
15 | 29 | “MONDO:0011513” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:50148092-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:605055” | “ECO:0000501” | “OMIM:605055” | NA | NA | NA | NA | NA | NA |
15 | 32 | “MONDO:0011513” | “biolink:has_phenotype” | “HP:0100256” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0929a1d4-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:605055” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
15 | 23 | “MONDO:0011513” | “biolink:has_phenotype” | “HP:0002185” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0929a1d3-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:605055” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
15 | 45 | “MONDO:0011513” | “biolink:has_phenotype” | “HP:0001250” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0929a1d1-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:605055” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
15 | 69 | “MONDO:0011513” | “biolink:has_phenotype” | “HP:0006790” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0929a1d2-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:605055” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
15 | 28 | “MONDO:0011513” | “biolink:has_phenotype” | “HP:0002511” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_to_phenotype_edges” | “uuid:0929a1d5-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseToEntityAssociationMixin”, “biolink:DiseaseToPhenotypicFeatureAssociation”, “biolink:Entity”, “biolink:EntityToFeatureOrDiseaseQualifiersMixin”, “biolink:EntityToPhenotypicFeatureAssociationMixin”, “biolink:FrequencyQualifierMixin”, “biolink:FrequencyQuantifier”, “biolink:RelationshipQuantifier”) | “OMIM:605055” | “ECO:0000501” | NA | NA | NA | NA | NA | NA | NA |
19 | 29 | “MONDO:0012321” | “biolink:has_mode_of_inheritance” | “HP:0000006” | “manual_agent” | “knowledge_assertion” | “monarch-kg_edges.jsonl” | “infores:monarchinitiative” | “infores:hpo-annotations” | “hpoa_disease_mode_of_inheritance_edges” | “uuid:4fc86cf2-26da-11ef-bf5b-4d3880f6f3e2” | c(“biolink:Association”, “biolink:DiseaseOrPhenotypicFeatureToEntityAssociationMixin”, “biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation”, “biolink:Entity”) | “OMIM:609636” | “ECO:0000501” | “OMIM:609636” | NA | NA | NA | NA | NA | NA |
ggraph(alz_phenos_labeled, layout = "sugiyama") +
geom_edge_link(aes(color = predicate),
arrow = arrow(length = unit(2, 'mm'), type = "closed"),
end_cap = circle(2.5, 'mm')) +
geom_node_point(aes(color = paste(pcategory, type)),
size = 3) +
geom_node_label(aes(label = str_wrap(name, 20)),
size = 2,
repel = TRUE,
check_overlap = TRUE,
fill = "#FFFFFF88")
And here’s a handy list of Alzheimers phenotypes, labeled with type as behavioral, mental, both, or other.
#ggraph(behavioral_mental_alz_phenos, layout = "sugiyama") +
alz_phenos_labeled |>
activate(nodes) |>
filter(pcategory == "biolink:PhenotypicFeature") |>
select(id, name, type, description) |>
arrange(type)
id | name | description | type |
---|---|---|---|
“HP:0006979” | “Sleep-wake cycle disturbance” | “Any abnormal alteration of an individual’s circadian rhythm that affects the timing of sleeping and being awake.” | “both” |
“HP:0001336” | “Myoclonus” | “Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.” | “both” |
“HP:0001288” | “Gait disturbance” | “The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.” | “both” |
“HP:0002395” | “Lower limb hyperreflexia” | NA | “both” |
“HP:0000751” | “Personality changes” | “An abnormal shift in patterns of thinking, acting, or feeling.” | “both” |
“HP:0003487” | “Babinski sign” | “Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.” | “both” |
“HP:0001332” | “Dystonia” | “An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.” | “both” |
“HP:0012433” | “Abnormal social behavior” | “An abnormality of actions or reactions of a person taking place during interactions with others.” | “both” |
“HP:0000657” | “Oculomotor apraxia” | “Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.” | “both” |
“HP:0001251” | “Ataxia” | “Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).” | “both” |
“HP:0000738” | “Hallucinations” | “Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.” | “both” |
“HP:0000734” | “Disinhibition” | “Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.” | “both” |
“HP:0002463” | “Language impairment” | “Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.” | “both” |
“HP:0000713” | “Agitation” | “A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.” | “both” |
“HP:0000726” | “Dementia” | “A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.” | “mental” |
“HP:0002186” | “Apraxia” | “A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.” | “mental” |
“HP:0100543” | “Cognitive impairment” | “Abnormal cognition with deficits in thinking, reasoning, or remembering.” | “mental” |
“HP:0002354” | “Memory impairment” | “An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.” | “mental” |
“HP:0010524” | “Agnosia” | “Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.” | “mental” |
“HP:0001260” | “Dysarthria” | “Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.” | “mental” |
“HP:0031868” | “Optic ataxia” | “Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.” | “mental” |
“HP:0010525” | “Finger agnosia” | “An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.” | “mental” |
“HP:0010526” | “Dysgraphia” | “A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.” | “mental” |
“HP:0001289” | “Confusion” | “Lack of clarity and coherence of thought, perception, understanding, or action.” | “mental” |
“HP:0001249” | “Intellectual disability” | “Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.” | “mental” |
“HP:0002381” | “Aphasia” | “An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.” | “mental” |
“HP:0011446” | “Abnormality of mental function” | “Cognitive, psychiatric, or memory anomaly.” | “mental” |
“HP:0030219” | “Semantic dementia” | “A progressive loss of the ability to remember the meaning of words, faces and objects.” | “mental” |
“HP:0002167” | “Abnormality of speech or vocalization” | “Abnormalities in the sound of a person’s speech or vocalization not necessarily associated with a known physical cause or due to stuttering or stammering.” | “mental” |
“HP:0002185” | “Neurofibrillary tangles” | “Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.” | “other” |
“HP:0410054” | “Decreased circulating GABA concentration” | “A decrease in the level of GABA in the serum.” | “other” |
“HP:0001300” | “Parkinsonism” | “Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.” | “other” |
“HP:0002423” | “Long-tract signs” | “Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.” | “other” |
“HP:0002511” | “Alzheimer disease” | “A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.” | “other” |
“HP:0000006” | “Autosomal dominant inheritance” | “A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.” | “other” |
“HP:0100256” | “Senile plaques” | “Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.” | “other” |
“HP:0011970” | “Cerebral amyloid angiopathy” | “Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.” | “other” |
“HP:0012662” | “Parietal hypometabolism in FDG PET” | “Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.” | “other” |
“HP:0002071” | “Abnormality of extrapyramidal motor function” | “A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).” | “other” |
“HP:0002015” | “Dysphagia” | “Difficulty in swallowing.” | “other” |
“HP:0002120” | “Cerebral cortical atrophy” | “Atrophy of the cortex of the cerebrum.” | “other” |
“HP:0001250” | “Seizure” | “A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.” | “other” |
“HP:0001285” | “Spastic tetraparesis” | “Spastic weakness affecting all four limbs.” | “other” |
“HP:0003791” | “Deposits immunoreactive to beta-amyloid protein” | NA | “other” |
“HP:0012759” | “Neurodevelopmental abnormality” | “A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.” | “other” |
“HP:0001276” | “Hypertonia” | “A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.” | “other” |
“HP:0000504” | “Abnormality of vision” | “Abnormality of eyesight (visual perception).” | “other” |
“HP:0006790” | “Cerebral cortex with spongiform changes” | NA | “other” |
from | to | subject | predicate | object | agent_type | knowledge_level | knowledge_source | aggregator_knowledge_source (list) | primary_knowledge_source | provided_by (list) | id | category (list) | original_subject | has_evidence (list) | publications (list) | has_total | has_quotient | has_count | has_percentage | onset_qualifier | frequency_qualifier |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
29 | 27 | “HP:0002167” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:f06e7c52-e8f3-444f-842f-566b2c098d4f” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
20 | 29 | “HP:0001260” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:451b6b5e-5a6f-42e6-b447-f0ceba8aff26” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
26 | 29 | “HP:0002381” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:c022f7f5-6b62-4fa4-b9dd-33f33644b5eb” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
23 | 29 | “HP:0010526” | “biolink:subclass_of” | “HP:0002167” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:30bb0a5e-d95a-414c-a1ef-f4c926eacca0” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
16 | 27 | “HP:0002186” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:4e9aaa35-3620-4a24-a2e5-cb9c0d00126d” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
17 | 27 | “HP:0100543” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:a34939e8-d6aa-4ab6-8e0e-dfef9b41f80e” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
18 | 17 | “HP:0002354” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:71fd176b-671a-4ae7-a11f-da1031b5ca1e” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
25 | 17 | “HP:0001249” | “biolink:subclass_of” | “HP:0100543” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:3e1c3cc5-8d6d-4f4a-b7f6-c9bcf7c4805f” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
19 | 27 | “HP:0010524” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:b36dc06c-9ef6-4890-909a-a3f7bd8d75c4” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
22 | 19 | “HP:0010525” | “biolink:subclass_of” | “HP:0010524” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:864b88dc-f80d-43a0-ba27-78e110f8c83a” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |
21 | 27 | “HP:0031868” | “biolink:subclass_of” | “HP:0011446” | “not_provided” | “not_provided” | “monarch-kg_edges.jsonl” | c(“infores:monarchinitiative”, “infores:phenio”) | “infores:hp” | “phenio_edges” | “urn:uuid:8f2cb284-4bd3-4bb3-8b7c-1179d46c7f4a” | c(“biolink:Association”, “biolink:Entity”) | NA | NULL | NULL | NA | NA | NA | NA | NA | NA |