Athabaskan Brainstem Dysgenesis Syndrome
Disease ID: disease_node_20575
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| Dbxref | MIM:601536, ORDO:69739 |
|---|---|
| Subclassof | DOID_936, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NAVAJO BRAINSTEM SYNDROME |
| Doid Label | Athabaskan brainstem dysgenesis syndrome |
| Doid Description | A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20575 |
| Doid Id | DOID_0050682 |
| Label | Athabaskan Brainstem Dysgenesis Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Brain Diseases(ID:disease_node_1682) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)