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"

85 matching diseasesClear search ×

OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor

OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor

ORPHA:642013

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

ORPHA:99893

Acrorenal syndrome

ORPHA:971

ACTH-dependent Cushing syndrome

ACTH-dependent CS · Adrenocorticotropic hormone-dependent Cushing syndrome

ORPHA:99892

Adrenal Cushing syndrome

Adrenal CS

ORPHA:647758

Adrenogenital syndrome

ORPHA:181412

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

ORPHA:189427

Cushing syndrome due to cortisol-producing adrenocortical adenoma

CS due to cortisol-producing adrenocortical adenoma

ORPHA:642788

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

ORPHA:99889

Endogenous Cushing syndrome

Endogenous CS

ORPHA:641613

OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia

ORPHA:189424

OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor

ORPHA:443287

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324982

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome

ORPHA:1034

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

ORPHA:93604

OBSOLETE: ATR-X-related syndrome

ORPHA:263355

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

ORPHA:306588

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

ORPHA:169446

OBSOLETE: AymÚ-Gripp syndrome

ORPHA:477668

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

ORPHA:1250

OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome

OBSOLETE: Jorgenson-Lenz syndrome

ORPHA:1256

OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

ORPHA:1258

OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome

OBSOLETE: Chitty-Hall-Webb syndrome

ORPHA:3331

OBSOLETE: Cardiomyopathy-renal anomalies syndrome

ORPHA:90022

OBSOLETE: Cardioskeletal syndrome

ORPHA:98734

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

OBSOLETE: Bonnet-Dechaume-Blanc syndrome · OBSOLETE: CAMS2

ORPHA:53719

OBSOLETE: Cerebrorenodigital syndrome

ORPHA:1396

OBSOLETE: Choroideremia-hypopituitarism syndrome

OBSOLETE: CHM-hypopituitarism syndrome

ORPHA:1434

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

ORPHA:1339

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type

OBSOLETE: Imaizumi-Kuroki syndrome

ORPHA:1534

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

ORPHA:553

OBSOLETE: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

ORPHA:1562

OBSOLETE: Deafness-white hair-contractures-papillomas syndrome

OBSOLETE: Davenport-Donlan syndrome

ORPHA:3215

OBSOLETE: Dennis-Cohen syndrome

ORPHA:1651

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

ORPHA:2454

OBSOLETE: Foix-Alajouanine syndrome

OBSOLETE: Subacute necrotizing myelitis · OBSOLETE: Angiodysgenetic necrotizing myelopathy

ORPHA:79093

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

ORPHA:99872

OBSOLETE: Heckenlively syndrome

ORPHA:2120

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

ORPHA:2129

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

ORPHA:3050

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

ORPHA:3313

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

ORPHA:3043

OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type

OBSOLETE: Davis-Lafer syndrome

ORPHA:3046

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

ORPHA:435

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

ORPHA:2005

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

ORPHA:2621