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: X-linked recessive optic atrophy

ORPHA:98678

OBSOLETE: X-linked retinal dysplasia

ORPHA:1852

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

OBSOLETE: Y chromosomal anomaly

ORPHA:263798

OBSOLETE: Zlotogura-Martinez syndrome

ORPHA:101036

OBSOLETE:Immune dysregulation with inflammatory bowel disease

ORPHA:529974

Occipital encephalocele

ORPHA:268823

Occipital horn syndrome

ORPHA:198

Occipital pachygyria and polymicrogyria

Occipital MCD · Occipital malformations of cortical development

ORPHA:280640

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Ocular albinism

ORPHA:284804

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

ORPHA:352740

Ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural hearing loss

ORPHA:1000

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

ORPHA:496790

Ocular cicatricial pemphigoid

ORPHA:99922

Ocular cystinosis

Adult-onset cystinosis · Non-nephropathic cystinosis

ORPHA:411641

Ocular motor apraxia, Cogan type

Oculomotor apraxia, Cogan type

ORPHA:1125

Ocular surface squamous neoplasia

OSSN

ORPHA:659744

Oculo-auriculo-vertebral spectrum

OAV spectrum · Oculoauriculovertebral spectrum

ORPHA:141132

Oculo-oto-facial dysplasia

ORPHA:77302

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

ORPHA:2714

Oculoauricular syndrome, Schorderet type

ORPHA:157962

Oculoauriculofrontonasal syndrome

OAFNS

ORPHA:398156

Oculoauriculovertebral spectrum with radial defects

Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome

ORPHA:2549

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

ORPHA:2719

Oculocerebral hypopigmentation syndrome, Preus type

ORPHA:2720

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

ORPHA:1647

Oculocerebrofacial syndrome, Kaufman type

ORPHA:2707

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

ORPHA:534

Oculocutaneous albinism

OCA

ORPHA:55

Oculocutaneous albinism type 1

OCA1

ORPHA:352731

Oculocutaneous albinism type 1A

OCA1A · Tyrosinase-negative oculocutaneous albinism

ORPHA:79431

Oculocutaneous albinism type 1B

OCA1B · Oculocutaneous albinism, Amish type

ORPHA:79434

Oculocutaneous albinism type 2

OCA2

ORPHA:79432

Oculocutaneous albinism type 3

OCA3 · Red oculocutaneous albinism

ORPHA:79433

Oculocutaneous albinism type 4

OCA4

ORPHA:79435

Oculocutaneous albinism type 5

OCA5

ORPHA:370091

Oculocutaneous albinism type 6

OCA6

ORPHA:370097

Oculocutaneous albinism type 7

OCA7

ORPHA:352745

Oculocutaneous albinism type 8

OCA8

ORPHA:597733

Oculocutaneous or ocular albinism

ORPHA:98706

Oculodental syndrome, Rutherfurd type

Gingival hypertrophy-corneal dystrophy · Rutherfurd syndrome

ORPHA:2709