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GTR Home > Conditions/Phenotypes > Ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia

Synonyms
Ghosal hematodiaphyseal dysplasia syndrome; Ghosal syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia (summary by Genevieve et al., 2008). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT14, CYP5, CYP5A1, GHOSAL, THAS, TS, TXAS, TXS, TBXAS1
    Summary: thromboxane A synthase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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