Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

Isolated constitutional thrombocytopenia

Non-syndromic constitutional thrombocytopenia · Constitutional thrombocytopenia without extra-hematopoietic manifestations

ORPHA:477797

Nephrotic syndrome without extrarenal manifestations

ORPHA:567564

Rare hemorrhagic disorder due to a constitutional thrombocytopenia

Rare hemorrhagic disorder due to a quantitative platelet defect · Rare bleeding disorder due to a quantitative platelet defect

ORPHA:275729

Syndromic constitutional thrombocytopenia

ORPHA:477794