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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:0003103 | Abnormal cortical bone morphology |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0006487 | Bowing of the long bones |
| HP:0001744 | Splenomegaly |
| HP:0004493 | Craniofacial hyperostosis |
| HP:0002823 | Abnormal femur morphology |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0002992 | Abnormal tibia morphology |
| HP:0005019 | Diaphyseal undertubulation |
| HP:0001903 | Anemia |
