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DOID:0112244 - alopecia, neurologic defects, and endocrinopathy syndrome
Disease Ontology 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.
Synonyms: alopecia-progressive neurological defect-endocrinopathy syndrome, ANES, ANE syndrome
Xenbase Genes
:
rbm28
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)