WormBase Tree Display for DO_term: DOID:0112251
expand all nodes | collapse all nodes | view schema
| DOID:0112251 | Name | Ghosal hematodiaphyseal syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | Ghosal hematodiaphyseal dysplasia | |||
| Ghosal syndrome | |||||
| diaphyseal dysplasia-anemia syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 231095 | |
| Attribute_of | Gene_by_orthology (13) |
