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"

24 matching diseasesClear search ×

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

ORPHA:93937

Congenital limb malformation

ORPHA:68378

Genetic congenital limb malformation

ORPHA:183536

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

ORPHA:295101

OBSOLETE: Adactyly of foot

OBSOLETE: Congenital absence of toes

ORPHA:435623

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

ORPHA:295118

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

ORPHA:295116

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

OBSOLETE: Congenital entropion

ORPHA:98568

OBSOLETE: Congenital hydromyelia

ORPHA:268874

OBSOLETE: Congenital hydronephrosis

ORPHA:2190

OBSOLETE: Congenital liver hemangioma

OBSOLETE: Congenital hepatic hemangioma

ORPHA:238691

OBSOLETE: Congenital myopathy with fiber size variation

ORPHA:172982

OBSOLETE: Congenital myopathy with protein accumulation

ORPHA:172973

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

OBSOLETE: Congenital patella dislocation, bilateral

ORPHA:295237

OBSOLETE: Congenital patella dislocation, unilateral

ORPHA:295234

OBSOLETE: Congenital upper palpebral retraction

ORPHA:98579

OBSOLETE: Congenital valvular dysplasia

ORPHA:1864

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

ORPHA:99872

OBSOLETE: Recessive aplasia cutis congenita of limbs

ORPHA:1115