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"

10,911 rare diseases

OBSOLETE: Chronic hepatic porphyria

ORPHA:95161

OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain

ORPHA:206610

OBSOLETE: Chronic pain requiring intraspinal analgesia

ORPHA:95426

OBSOLETE: CINCA syndrome with NLRP3 mutations

ORPHA:93365

OBSOLETE: CINCA syndrome without NLRP3 mutations

ORPHA:93367

OBSOLETE: Circumscribed lymphatic malformation

OBSOLETE: Circumscribed lymphangioma

ORPHA:217410

OBSOLETE: Classic mast cell leukemia

ORPHA:158796

OBSOLETE: Classic paraneoplastic limbic encephalitis

OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens

ORPHA:163898

OBSOLETE: Classic seminoma

ORPHA:99864

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

ORPHA:1995

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

ORPHA:352694

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

ORPHA:352704

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

ORPHA:352699

OBSOLETE: Collagenous colitis

ORPHA:36205

OBSOLETE: Colobomatous and areolar dystrophy

ORPHA:98665

OBSOLETE: Combined hyperlipidemia

OBSOLETE: Mixed hyperlipidemia · OBSOLETE: Mixed hyperlipoproteinemia

ORPHA:79211

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

ORPHA:1572

OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect

OBSOLETE: CVID due to an intrinsic B cell defect

ORPHA:77303

OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect

OBSOLETE: CVID due to an intrinsic T cell defect

ORPHA:99831

OBSOLETE: Common variable immunodeficiency due to TNFR deficiency

OBSOLETE: CVID due to TNFR deficiency

ORPHA:183672

OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome

OBSOLETE: CAVC-left heart obstruction syndrome

ORPHA:99066

OBSOLETE: Congenital absence of both forearm and hand, bilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral

ORPHA:295095

OBSOLETE: Congenital absence of both forearm and hand, unilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral

ORPHA:295093

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 the eyebrow/eyelashes

ORPHA:98598

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 of upper arm and forearm with hand present, bilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral

ORPHA:295087

OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral

ORPHA:295085

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb

OBSOLETE: Digits 2-5 hypodactyly · OBSOLETE: Digits 2-5 oligodactyly

ORPHA:294990

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral

OBSOLETE: Adactyly of hand, bilateral · OBSOLETE: Digits 2-5 hypodactyly, bilateral

ORPHA:295114

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

OBSOLETE: Congenital adrenal hypoplasia of maternal cause

ORPHA:95701

OBSOLETE: Congenital aortic valve insufficiency

ORPHA:95449

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

OBSOLETE: Congenital blindness due to retinal non-attachment

ORPHA:300337

OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome

ORPHA:2292

OBSOLETE: Congenital cataract-ichthyosis syndrome

ORPHA:1376

OBSOLETE: Congenital cataract, Volkmann type

ORPHA:98983

OBSOLETE: Congenital central diabetes insipidus

ORPHA:95501

OBSOLETE: Congenital entropion

ORPHA:98568

OBSOLETE: Congenital hydromyelia

ORPHA:268874

OBSOLETE: Congenital hydronephrosis

ORPHA:2190