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Ghosal hematodiaphyseal syndrome
Summary
- Synonym
-
- Ghosal hematodiaphyseal dysplasia
- Ghosal syndrome
- diaphyseal dysplasia-anemia 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112251
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010978 | Abnormality of immune system physiology |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0005505 | Refractory anemia |
| HP:0011974 | Myelofibrosis |
| HP:0001873 | Thrombocytopenia |
| HP:0005890 | Hyperostosis cranialis interna |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011001 | Increased bone mineral density |
| HP:0001882 | Leukopenia |
