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Ghosal hematodiaphyseal syndrome (DOID:0112251)
Alliance: disease page
Synonyms: diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome
Alt IDs: OMIM:231095, ORDO:1802
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory