Terminology Service for NFDI4Health
Athabaskan brainstem dysgenesis syndrome
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http://purl.obolibrary.org/obo/DOID_0050682
A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
Athabaskan brainstem dysgenesis syndrome
Synonyms
- NAVAJO BRAINSTEM SYNDROME
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050682