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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

GARD:10297

OMIM:231095

ORDO:1802

Subsets

DO_rare_slim

Synonyms

diaphyseal dysplasia-anemia syndrome [EXACT]

Ghosal hematodiaphyseal dysplasia [EXACT]

Ghosal syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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