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DO Term : alopecia, neurologic defects, and endocrinopathy syndrome [DOID:0112244] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ANES,
  • MESH:C567425,
  • ANE syndrome,
  • 612079,
  • OMIM:612079,
  • alopecia-progressive neurological defect-endocrinopathy syndrome,
  • ORDO:157954
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