neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima Disease Ontology Browser

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Disease Ontology Browser

neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (DOID:0070807)
Alliance: disease page
Synonyms: NEDAPA
Alt IDs: OMIM:621328, UMLS_CUI:C6065904
Definition: A syndrome characterized by mild developmental delay/impaired intellectual development, variable achalasia, and peripheral motor polyneuropathy without endocrine abnormalities that has_material_basis_in homozygous mutation in the NDC1 gene (610115) on chromosome 1p32.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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