Search Ontology:
Human Disease
Ghosal hematodiaphyseal syndrome
- Term ID
- DOID:0112251
- Synonyms
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- diaphyseal dysplasia-anemia syndrome
- Ghosal hematodiaphyseal dysplasia
- Ghosal syndrome
- 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. (3)
- References
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- GARD:10297
- MIM:231095
- ORDO:1802
- Ontology
- Human Disease ( DOID:0112251 )
- is a type of
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