Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613265 http://purl.bioontology.org/ontology/OMIM/613265
Preferred Name	WAARDENBURG SYNDROME, TYPE 4B
Synonyms	WAARDENBURG SYNDROME, TYPE IVB WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE WS4B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	WAARDENBURG SYNDROME, TYPE IVB WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE WS4B
prefLabel	WAARDENBURG SYNDROME, TYPE 4B
Gene Symbol	HSCR4 EDN3 WS4B
Scope Statement	Incomplete penetrance of some features [MISCELLANEOUS] Both homozygous and heterozygous EDN3 mutations have been found [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the endothelin-3 gene (EDN3, 131242.0001) [MOLECULAR BASIS] Variable severity, intrafamilial [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050343 http://purl.bioontology.org/ontology/OMIM/MTHU001245 http://purl.bioontology.org/ontology/OMIM/MTHU001246 http://purl.bioontology.org/ontology/OMIM/MTHU003463 http://purl.bioontology.org/ontology/OMIM/MTHU001247 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU000437 http://purl.bioontology.org/ontology/OMIM/MTHU001248 http://purl.bioontology.org/ontology/OMIM/MTHU001252 http://purl.bioontology.org/ontology/OMIM/MTHU024452 See more See less
tui	T047
Gene Locus	20q13.2-q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613265
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2750457
OMIM Entry Type	3
OMIM MimType Value	pound

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