Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600155 http://purl.bioontology.org/ontology/OMIM/600155
Preferred Name	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
Synonyms	HSCR2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HSCR2
prefLabel	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
Gene Symbol	EDNRB WS4A HSCR2 ABCDS
Scope Statement	Penetrance of phenotype may be dosage sensitive [MISCELLANEOUS] Susceptibility conferred by mutation in the endothelin receptor type B gene (EDNRB, 131244.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU058595 http://purl.bioontology.org/ontology/OMIM/MTHU003463
tui	T033
Gene Locus	13q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600155
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1838564
OMIM Entry Type	3
OMIM MimType Value	pound

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