Visceral neuropathy, familial, 2, autosomal recessive

Preferred Label : Visceral neuropathy, familial, 2, autosomal recessive;

Symbol : VSCN2;

Type : Phenotype, molecular basis known;

Prefixed ID : #619465;

Détails

Origin ID

619465;

UMLS CUI

C5561950;

Genes related to phenotype
- Erb-b2 receptor tyrosine kinase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic constipation [HPO term]
- Infantile onset [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short-segment aganglionic megacolon [HPO term]
- Talipes equinovarus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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