Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Brachydactyly type A1
Synonyms	Brachydactyly, Farabee type
ID	http://www.limics.org/hrdo/rdfns#pat_id_12311
ageOfOnset	Neonatal/infancy
altLabel	Brachydactyly, Farabee type
id_Medline	neant
id_MeSH	C537088
id_MIM	112500 607004 615072
id_OMS	Q73.8
id_Orpha	93388
id_UMLS	C1862151
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_12311
prefLabel	Brachydactyly type A1
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_93388	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007215	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0110964	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110964	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110964	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0110964	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110964	FNS-H	LOOM
http://purl.bioontology.org/ontology/OMIM/112500	OMIM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/715720006	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007215	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007215	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007215	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU061664	OMIM	LOOM
http://purl.org/skeletome/bonedysplasia#Brachydactyly_type_A1	BDO	LOOM
http://purl.bioontology.org/ontology/MESH/C537088	MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU019237	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537088	RH-MESH	LOOM
rgo:28492	GAMUTS	LOOM