| Metadata | |
|---|---|
| ID | DOID:0070807 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070807 Copy |
| Name | neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima |
| 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. https://pubmed.ncbi.nlm.nih.gov/39003500/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6065904 exactMatch MIM:621328 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDAPA [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |