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ghosal hematodiaphyseal dysplasia

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Uniprot Description Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all.
Mondo Term and Equivalent IDs
MONDO:0009274:  ghosal hematodiaphyseal dysplasia
GARD:0010297: 
MESH:C565551: 
Orphanet:1802: 
SCTID:389214003: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found