inherited thrombocytopenia
MONDO:0100241Mondo
Findings
No curated finding names inherited thrombocytopenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of thrombocytopenia that is inherited.
Definition from the Mondo Disease Ontology (MONDO:0100241), read 2026-09-29. CC BY 4.0.
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.
- NOTCH3HGNC:7883
- Limited · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (27)
- alpha granule disease
- autosomal dominant macrothrombocytopenia
- bleeding disorder, platelet-type, 21
- congenital amegakaryocytic thrombocytopenia
- congenital autosomal recessive small-platelet thrombocytopenia
- congenital thrombotic thrombocytopenic purpura
- isolated delta-storage pool disease
- macrothrombocytopenia, isolated
- MECOM-associated syndrome
- platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
- platelet-type bleeding disorder 17
- platelet-type bleeding disorder 20
- syndromic constitutional thrombocytopenia
- thrombocytopenia 1
- thrombocytopenia 10
- thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
- thrombocytopenia 12 with or without myopathy
Other names
1 name
Resolves to: inherited thrombocytopenia
- Also called
- hereditary thrombocytopenia