Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	McKusick-Kaufman syndrome
Synonyms	MKKS
Definitions	(MKKS) - Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
ID	http://identifiers.org/omim/236700
altLabel	MKKS
definition	(MKKS) - Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
id	OMIM:236700
notation	OMIM:236700
prefLabel	McKusick-Kaufman syndrome
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/236700	REXO	SAME_URI
http://identifiers.org/omim/236700	GEXO	SAME_URI
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://www.limics.org/hrdo/rdfns#pat_id_2286	HRDO	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://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