Search Ontology:
Human Disease

alopecia, neurologic defects, and endocrinopathy syndrome

Term ID
DOID:0112244
Synonyms
  • alopecia-progressive neurological defect-endocrinopathy syndrome
  • ANE syndrome
  • ANES
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/
References
Ontology
Human Disease   ( DOID:0112244 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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