The annotation has been inferred from sequence or structural similarity with Ednrb (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
Curation Notes: ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
An association has been curated linking EDNRB
and Hirschsprung's disease in Homo sapiens.
The association was inferred by association of genotype and phenotype (IAGP)
Curation Notes: ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2