FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Ghosal hematodiaphyseal syndrome ID (Ontology) DOID:0112251 (Human Disease)
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.
Also Known As "diaphyseal dysplasia-anemia syndrome" ; "Ghosal hematodiaphyseal dysplasia" ; "Ghosal syndrome"
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 Genes
 Ghosal hematodiaphyseal syndrome      13
 for disease ribbon | Ghosal hematodiaphyseal syndrome      13
 model of | Ghosal hematodiaphyseal syndrome      13
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Ghosal hematodiaphyseal syndrome  13 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "diaphyseal dysplasia-anemia syndrome" EXACT
    "Ghosal hematodiaphyseal dysplasia" EXACT
    "Ghosal syndrome" EXACT
Secondary IDs
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GARD:10297
MIM:231095
ORDO:1802