ZFIN Human Disease: Ghosal hematodiaphyseal syndrome

OBO ID: DOID:0112251

Term Name:	Ghosal hematodiaphyseal syndrome		Search Ontology:
Synonyms:	diaphyseal dysplasia-anemia syndrome Ghosal hematodiaphyseal dysplasia Ghosal 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. (3)
References:	GARD:10297 OMIM:231095 ORDO:1802
Ontology:	Human Disease ( DOID:0112251 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Ghosal hematodiaphyseal syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBXAS1	tbxas1	Ghosal hematodiaphyseal syndrome	231095

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None