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"

51 matching diseasesClear search ×

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

ORPHA:157826

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital neutropenia

Constitutional neutropenia

ORPHA:101987

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631

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: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

ORPHA:1572

OBSOLETE: Congenital absence of the eyebrow/eyelashes

ORPHA:98598

OBSOLETE: Congenital adrenal hypoplasia of maternal cause

ORPHA:95701

OBSOLETE: Congenital aortic valve insufficiency

ORPHA:95449

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

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

OBSOLETE: Congenital liver hemangioma

OBSOLETE: Congenital hepatic hemangioma

ORPHA:238691

OBSOLETE: Congenital myopathy with central nuclei

ORPHA:172979

OBSOLETE: Congenital myopathy with vacuoles

ORPHA:172985

OBSOLETE: Congenital patella dislocation, bilateral

ORPHA:295237

OBSOLETE: Congenital patella dislocation, unilateral

ORPHA:295234

OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance

OBSOLETE: CSID with starch intolerance · OBSOLETE: Disaccharide intolerance with starch intolerance

ORPHA:306436

OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance

OBSOLETE: CSID without starch intolerance · OBSOLETE: Disaccharide intolerance without starch intolerance

ORPHA:306462

OBSOLETE: Congenital systemic arteriovenous fistula

ORPHA:2039

OBSOLETE: Congenital unilateral pulmonary hypoplasia

ORPHA:2258

OBSOLETE: Congenital upper palpebral retraction

ORPHA:98579

OBSOLETE: Congenital valvular dysplasia

ORPHA:1864

OBSOLETE: Congenital vitreoretinal dysplasia

ORPHA:98669

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

ORPHA:363629

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

ORPHA:99872

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

ORPHA:168491