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Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0111060

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_420

rdfs:label

Ambras type hypertrichosis universalis congenita

wdrs:describedby

n7:doid.owl

obo:id

DOID:0111060

obo:hasDbXref

GARD:8206 OMIM:145701 ORDO:1023 ICD10CM:Q84.2 MESH:C536605

obo:hasExactSynonym

Ambras syndrome HTC1

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22.