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"

35 matching diseasesClear search ×

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

ORPHA:1739

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

ORPHA:96072

Distal duplication 4q syndrome

Distal trisomy 4q · Telomeric duplication 4q

ORPHA:96096

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

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

ORPHA:93963

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: Benign exophthalmos syndrome

OBSOLETE: BES

ORPHA:71269

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

ORPHA:1572

OBSOLETE: Deletion 20p

OBSOLETE: Monosomy 20p

ORPHA:1611

OBSOLETE: Deletion 4q

OBSOLETE: Monosomy 4q

ORPHA:1625

OBSOLETE: Distal monosomy 20q

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

ORPHA:96152

OBSOLETE: Epidermolysis bullosa simplex superficialis

OBSOLETE: EBSS

ORPHA:89839

OBSOLETE: Familial restrictive cardiomyopathy type 3

OBSOLETE: RCM3

ORPHA:218432

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

ORPHA:99654

OBSOLETE: Gastric neuroendocrine tumor type 4

OBSOLETE: GNET type 4

ORPHA:481481

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450

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: 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: Primary intraocular lymphoma

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

ORPHA:279904

OBSOLETE: Rapidly progressive glomerulonephritis

OBSOLETE: RPGN · OBSOLETE: Crescentic glomerulonephritis

ORPHA:280569

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

ORPHA:306597

OBSOLETE: Xeroderma pigmentosum complementation group A

OBSOLETE: XPA

ORPHA:276249

OBSOLETE: Xeroderma pigmentosum complementation group B

OBSOLETE: XPB

ORPHA:276252

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

ORPHA:276255

OBSOLETE: Xeroderma pigmentosum complementation group D

OBSOLETE: XPD

ORPHA:276258

OBSOLETE: Xeroderma pigmentosum complementation group E

OBSOLETE: XPE

ORPHA:276261

OBSOLETE: Xeroderma pigmentosum complementation group F

OBSOLETE: XPF

ORPHA:276264

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG

ORPHA:276267