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"

10 matching diseasesClear search ×

Congenital neutropenia

Constitutional neutropenia

ORPHA:101987

Constitutional deficiency anemia

ORPHA:248296

Cyclic neutropenia

ORPHA:2686

Isolated constitutional thrombocytopenia

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

ORPHA:477797

Neonatal neutropenia

ORPHA:37629

Rare constitutional anemia

ORPHA:183651

Rare constitutional aplastic anemia

ORPHA:68383

Severe congenital neutropenia

ORPHA:42738

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

ORPHA:331184

Syndromic constitutional thrombocytopenia

ORPHA:477794