ghosal hematodiaphyseal dysplasia
Findings
No curated finding names ghosal hematodiaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Definition from the Mondo Disease Ontology (MONDO:0009274), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Bone marrow hypocellularityHPOHP:0005528
- 2 of 2 reported patients
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Cortical thickening of long bone diaphysesHPOHP:0005791
- 1 of 1 reported patient
- Decreased serum thromboxane B2HPOHP:0032244
- 2 of 2 reported patients
- Diaphyseal dysplasiaHPOHP:0100252
- 10 of 10 reported patients
- Diaphyseal undertubulation
Show the remaining 25
- Megakaryocyte dysplasiaHPOHP:0031689
- 1 of 1 reported patient
- Metaphyseal wideningHPOHP:0003016
- 2 of 2 reported patients
- MyelofibrosisHPOHP:0011974
- 3 of 3 reported patients
- Normocytic anemiaHPOHP:0001897
- 2 of 2 reported patients
- ReticulocytosisHPOHP:0001923
- 2 of 2 reported patients
- Thickened cortex of long bonesHPOHP:0000935
- 10 of 10 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBXAS1HGNC:11609
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: ghosal hematodiaphyseal dysplasia
- Also called
- diaphyseal dysplasia-anemia syndromeGhosal syndrome