Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Brachydactyly type A2
Synonyms	Brachydactyly, Mohr-Wriedt type
ID	http://www.limics.org/hrdo/rdfns#pat_id_12318
ageOfOnset	Neonatal/infancy
altLabel	Brachydactyly, Mohr-Wriedt type
id_Medline	neant
id_MeSH	C537089
id_MIM	112600
id_OMS	Q73.8
id_Orpha	93396
id_UMLS	C1832702
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_12318
prefLabel	Brachydactyly type A2
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110965	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110965	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110965	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0110965	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110965	FNS-H	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/720569006	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537089	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_93396	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007216	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007216	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007216	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007216	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/112600	OMIM	LOOM
rgo:28667	GAMUTS	LOOM
http://purl.org/skeletome/bonedysplasia#Brachydactyly_type_A2	BDO	LOOM
http://purl.bioontology.org/ontology/MESH/C537089	MESH	LOOM