Details of Disease | DrugMAP

General Information of Disease (ID: DISBFA9N)

Disease Name	Ghosal hematodiaphyseal dysplasia
Synonyms	GHDD; GHOSAL hematodiaphyseal dysplasia; Ghosal hematodiaphyseal dysplasia syndrome; Ghosal hematodiaphyseal syndrome; diaphyseal dysplasia-anemia syndrome; Ghosal syndrome; ghosal hematodiaphyseal dysplasia
Definition	Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Disease Hierarchy	DIS5Z8U6: Skeletal dysplasia DISBFA9N: Ghosal hematodiaphyseal dysplasia
Disease Identifiers	MONDO ID MONDO_0009274 MESH ID C565551 UMLS CUI C1856465 OMIM ID 231095 MedGen ID 344739 Orphanet ID 1802 SNOMED CT ID 389214003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TBXAS1	TTKNWZ4	Limited	Genetic Variation	[1]
TBXAS1	TTKNWZ4	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP2S1	DE6NMGO	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBXAS1	OTAXZJJ4	Definitive	Autosomal recessive	[2]
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References

1	Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings.Transfus Apher Sci. 2019 Aug;58(4):449-452. doi: 10.1016/j.transci.2019.04.027. Epub 2019 Jul 22.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.