Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	McKusick-Kaufman syndrome
Synonyms	Hydrometrocolpos - postaxial polydactyly Kaufman-Mckusick syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_2286
ageOfOnset	Childhood
altLabel	Hydrometrocolpos - postaxial polydactyly Kaufman-Mckusick syndrome
id_MedDRA	10052312
id_Medline	neant
id_MeSH	C538159
id_MIM	236700
id_OMS	Q87.8
id_Orpha	2473
id_UMLS	C0948368
inheritance	Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_2286
prefLabel	McKusick-Kaufman syndrome
prevalence	Unknown
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/OMIM_236700	CCO	LOOM
http://www.orpha.net/ORDO/Orphanet_2473	ORDO	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_15	HAMIDEHSGH	LOOM
http://purl.bioontology.org/ontology/MESH/C538159	MESH	LOOM
http://identifiers.org/omim/236700	REXO	LOOM
http://identifiers.org/omim/236700	GEXO	LOOM
http://identifiers.org/omim/236700	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/236700	OMIM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/702407009	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DOID_0111255	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111255	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111255	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111255	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111255	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538159	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0009367	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009367	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009367	DOVES	LOOM