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: DDX59-related orofaciodigital syndrome

ORPHA:369902

OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome

ORPHA:3229

OBSOLETE: Deafness-white hair-contractures-papillomas syndrome

OBSOLETE: Davenport-Donlan syndrome

ORPHA:3215

OBSOLETE: Deletion 20p

OBSOLETE: Monosomy 20p

ORPHA:1611

OBSOLETE: Deletion 4q

OBSOLETE: Monosomy 4q

ORPHA:1625

OBSOLETE: Dennis-Cohen syndrome

ORPHA:1651

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

ORPHA:163988

OBSOLETE: Diabetes associated to exocrine pancreas neoplasia

ORPHA:98167

OBSOLETE: Digestive duplication

ORPHA:238

OBSOLETE: Disease predisposing to age-related macular degeneration

ORPHA:98667

OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells

ORPHA:101980

OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features

ORPHA:98703

OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells

ORPHA:101978

OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells

ORPHA:101982

OBSOLETE: Disorder in the hormonal synthesis with or without goiter

ORPHA:872

OBSOLETE: Disorder with acute infantile liver failure

ORPHA:464682

OBSOLETE: Distal monosomy 20q

OBSOLETE: Monosomy 20qter · OBSOLETE: Distal deletion 20q

ORPHA:96152

OBSOLETE: Distal spinal muscular atrophy

ORPHA:206713

OBSOLETE: Drug and/or toxic myopathy

ORPHA:206985

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

ORPHA:1739

OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome

OBSOLETE: Mollica-Pavone-Antener syndrome

ORPHA:2650

OBSOLETE: Dyschondrosteosis-nephritis syndrome

ORPHA:1765

OBSOLETE: Dysharmonic micromelia

ORPHA:93470

OBSOLETE: Dysmorphic syndrome associated with bone anomaly

ORPHA:93472

OBSOLETE: Early infantile epileptic encephalopathy without suppression burst

ORPHA:369894

OBSOLETE: Early-onset schizophrenia

ORPHA:96369

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

OBSOLETE: Ectodermal malformation syndrome associated with ocular features

ORPHA:98709

OBSOLETE: Ehlers-Danlos syndrome type 1

OBSOLETE: EDS I

ORPHA:90309

OBSOLETE: Ehlers-Danlos syndrome type 2

OBSOLETE: EDS II

ORPHA:90318

OBSOLETE: Ehlers-Danlos syndrome type 7A

OBSOLETE: EDS VIIA

ORPHA:99875

OBSOLETE: Ehlers-Danlos syndrome type 7B

OBSOLETE: EDS VIIB

ORPHA:99876

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality · OBSOLETE: EDS X

ORPHA:75501

OBSOLETE: Embryonary disorganization syndrome

ORPHA:1664

OBSOLETE: Endocrine myopathy

ORPHA:207003

OBSOLETE: Envenomization by Bothrops lanceolatus

OBSOLETE: Envenomization by the Martinique lancehead viper

ORPHA:1939

OBSOLETE: Eosinophilic granuloma

OBSOLETE: Chronic and localized Langerhans cell histiocytosis

ORPHA:99871

OBSOLETE: Epicanthal fold

ORPHA:98573

OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome

ORPHA:2694

OBSOLETE: Epidermolysis bullosa simplex superficialis

OBSOLETE: EBSS

ORPHA:89839

OBSOLETE: Epimetaphyseal skeletal dysplasia

ORPHA:1819

OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome

ORPHA:103912

OBSOLETE: Erythromelalgia

ORPHA:1956

OBSOLETE: Extensive peripapillary myelinated nerve fibers

ORPHA:440724

OBSOLETE: Eyebrow hypertrophy

ORPHA:98596

OBSOLETE: Eyebrow/eyelashes distichiasis

ORPHA:98600

OBSOLETE: Eyebrow/eyelashes hypertrichosis

ORPHA:98595

OBSOLETE: Eyebrow/eyelashes pigmentation anomaly

ORPHA:98601