Ghosal Hematodiaphyseal Syndrome
Disease ID: disease_node_20224
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| Dbxref | GARD:10297, MIM:231095, ORDO:1802 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Ghosal hematodiaphyseal dysplasia, Ghosal syndrome, diaphyseal dysplasia-anemia syndrome |
| Doid Label | Ghosal hematodiaphyseal syndrome |
| Doid Description | A syndrome characterized by increased bone density with predomit diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20224 |
| Doid Id | DOID_0112251 |
| Label | Ghosal Hematodiaphyseal Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)