EDNRB

endothelin receptor type B

3 disorders 1 susceptibility 1 causative 1 untyped 13q22.3 gene with protein product

HGNC:3180 Monarch NCBI Gene 1910 ENSG00000136160 UniProt P24530 OMIM 131244

Previous symbols: HSCR2, HSCR. Aliases: ETB.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Craniofacial Microsomia	susceptibility	mechanism: Heterogeneous Insult to First and Second Pharyngeal Arch Development
EDN3/EDNRB Waardenburg-Shah	causative germline	mechanism: EDN3 ligand and EDNRB receptor signaling deficiency; Heterozygous EDNRB susceptibility subtype: Waardenburg Syndrome Type 4A scoped to subtype: Waardenburg Syndrome Type 4A
Hirschsprung Disease	untyped Germline Mutations

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Waardenburg syndrome type 4A MONDO:0010192	AD	Limited 2018-05-08	EDN3/EDNRB Waardenburg-Shah causative
Waardenburg syndrome type 4A MONDO:0010192	AR	Moderate 2023-06-27	EDN3/EDNRB Waardenburg-Shah causative

Mechanism modules · computed from kb/

pharyngeal_arch_patterning_serial_homology via Craniofacial Microsomia

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.