WormBase Tree Display for DO_term: DOID:0112251
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DOID:0112251 | Name | Ghosal hematodiaphyseal syndrome | |||
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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 (3) | ||||
Parent | Is_a (2) | ||||
DB_info | Database | OMIM | disease | 231095 | |
Attribute_of | Gene_by_orthology (13) |