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"

59 matching diseasesClear search ×

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Congenital absence of both lower leg and foot, bilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral

ORPHA:295099

OBSOLETE: Congenital absence of both lower leg and foot, unilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral

ORPHA:295097

OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral

ORPHA:295091

OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral

ORPHA:295089

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

ORPHA:295112

OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral

OBSOLETE: Thumb hypodactyly, unilateral · OBSOLETE: Thumb oligodactyly, unilateral

ORPHA:295110

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

ORPHA:2879

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471