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DOID:0112251 - Ghosal hematodiaphyseal syndrome
Disease Ontology Definition:A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
Synonyms: diaphyseal dysplasia-anemia syndrome, Ghosal hematodiaphyseal dysplasia, Ghosal syndrome
Xenbase Genes
:
tbxas1
| MIM:231095 - GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD |
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)