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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0110965
rdf:type
owl:Class
rdfs:subClassOf
_:vb50943999 n2:DOID_0050581 n2:DOID_0050736
rdfs:label
brachydactyly type A2
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110965
obo:hasDbXref
OMIM:112600 GARD:979 SNOMEDCT_US_2021_09_01:720569006 UMLS_CUI:C1832702 MESH:C537089 ORDO:93396
obo:hasExactSynonym
Mohr-Wriedt type brachydactyly brachymesophalangy II BDA2
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
Subject Item
_:vb50943999
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl