Ghosal hematodiaphyseal dysplasia

Preferred Label : Ghosal hematodiaphyseal dysplasia;

Symbol : GHDD;

CISMeF acronym : GHDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ghosal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thromboxane A synthase-1 gene (TBXAS1, 274180.0001);

Prefixed ID : #231095;

Details

Origin ID

231095;

UMLS CUI

C1856465;

Currated CISMeF NLP mapping
- Diaphyseal dysplasia with anemia [PASCAL descriptor]
- Ghosal haematodiaphyseal dysplasia [ICD-11 More detail]
- Ghosal hematodiaphyseal dysplasia [ORDO Disease]
- Ghosal hematodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Ghosal hematodiaphyseal syndrome [DO Concept]
- Ghosal syndrome [Disease (Nov.)]
- ghosal hematodiaphyseal dysplasia [MeSH concept]
- ghosal hematodiaphyseal dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Thromboxane a synthase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Diaphyseal dysplasia [HPO term]
- Hyperostosis cranialis interna [HPO term]
- Increased bone mineral density [HPO term]
- Leukopenia [HPO term]
- Myelofibrosis [HPO term]
- Refractory anemia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Ghosal hematodiaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ghosal haematodiaphyseal dysplasia [ICD-11 More detail]
- Ghosal hematodiaphyseal dysplasia [ORDO Disease]
- Ghosal hematodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Ghosal syndrome [Disease (Nov.)]
- ghosal hematodiaphyseal dysplasia [MeSH Supplementary Concept]
- ghosal hematodiaphyseal dysplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

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