| Metadata | |
|---|---|
| ID | DOID:0112244 |
| Name | alopecia, neurologic defects, and endocrinopathy syndrome |
| Definition | A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. https://pubmed.ncbi.nlm.nih.gov/18439547/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alopecia-progressive neurological defect-endocrinopathy syndrome [EXACT] ANE syndrome [EXACT] ANES [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |