| Metadata | |
|---|---|
| ID | DOID:0112251 |
| Name | Ghosal hematodiaphyseal 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. https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/, https://pubmed.ncbi.nlm.nih.gov/18264100/, https://pubmed.ncbi.nlm.nih.gov/3385529/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
diaphyseal dysplasia-anemia syndrome [EXACT] Ghosal hematodiaphyseal dysplasia [EXACT] Ghosal syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |