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DO Term : MEDNIK syndrome [DOID:0060483] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.

synonyms:
erythrokeratodermia variabilis 3,
609313,
ORDO:171851,
OMIM:609313,
erythrokeratodermia variabilis, Kamouraska type,
mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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