Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	WAARDENBURG SYNDROME, TYPE 4B
Synonyms	WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE
ID	http://purl.bioontology.org/ontology/OMIM/613265
altLabel	WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE WAARDENBURG SYNDROME, TYPE IVB WS4B
cui	C2750457
Gene Locus	20q13.2-q13.3
Gene Symbol	HSCR4 EDN3 WS4B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU024449 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU030269 http://purl.bioontology.org/ontology/OMIM/MTHU024452 http://purl.bioontology.org/ontology/OMIM/MTHU024450 http://purl.bioontology.org/ontology/OMIM/MTHU003463 http://purl.bioontology.org/ontology/OMIM/MTHU050343 http://purl.bioontology.org/ontology/OMIM/MTHU001096 http://purl.bioontology.org/ontology/OMIM/MTHU001248 http://purl.bioontology.org/ontology/OMIM/MTHU001246 http://purl.bioontology.org/ontology/OMIM/MTHU000437 http://purl.bioontology.org/ontology/OMIM/MTHU024453 http://purl.bioontology.org/ontology/OMIM/MTHU001247 http://purl.bioontology.org/ontology/OMIM/MTHU001245 http://purl.bioontology.org/ontology/OMIM/MTHU001252
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613265
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	WAARDENBURG SYNDROME, TYPE 4B
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567680	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C567680	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0110954	Human Disease Ontology 123	LOOM