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"

70 matching diseasesClear search ×

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

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

ORPHA:53719

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

ORPHA:93668

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Aniridia

ORPHA:77

OBSOLETE: Atypical teratoid/rhabdoid tumor

OBSOLETE: AT/RT

ORPHA:251891

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

ORPHA:93963

OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H

OBSOLETE: LGMD1H

ORPHA:238755

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

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

ORPHA:306588

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

ORPHA:100990

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

ORPHA:169446

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

ORPHA:71269

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Canthal anomaly

ORPHA:98572

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1

OBSOLETE: CAMS1

ORPHA:141194

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3

OBSOLETE: CAMS3

ORPHA:141199

OBSOLETE: Channelopathy

ORPHA:140503

OBSOLETE: Choristoma

ORPHA:91353

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

ORPHA:1572

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: Epidermolysis bullosa simplex superficialis

OBSOLETE: EBSS

ORPHA:89839

OBSOLETE: Familial articular chondrocalcinosis type 1

OBSOLETE: CCAL1

ORPHA:99781

OBSOLETE: Familial articular chondrocalcinosis type 2

OBSOLETE: CCAL2

ORPHA:99782

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

ORPHA:99764

OBSOLETE: Familial restrictive cardiomyopathy type 3

OBSOLETE: RCM3

ORPHA:218432

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

ORPHA:99654

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

ORPHA:103915

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type

OBSOLETE: JEN-nH

ORPHA:89840

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

ORPHA:2778

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

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

ORPHA:228418

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

ORPHA:2756

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

ORPHA:141327

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

ORPHA:141330

OBSOLETE: Pili canulati

ORPHA:719

OBSOLETE: Primary intraocular lymphoma

OBSOLETE: Primary vitreoretinal large B-cell lymphoma · OBSOLETE: PIOL

ORPHA:279904

OBSOLETE: Primary peritoneal serous/papillary carcinoma

OBSOLETE: PPSPC

ORPHA:398980