Metadata | |
---|---|
ID | DOID:0050682 |
Name | Athabaskan brainstem dysgenesis syndrome |
Definition | A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. https://www.ncbi.nlm.nih.gov/pubmed/18412118, https://www.omim.org/entry/601536 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
NAVAJO BRAINSTEM SYNDROME [EXACT] |
Parent Relationships |
is_a brain disease |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |