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: Symptomatic form of fragile X syndrome in female carriers

ORPHA:449291

OBSOLETE: Syndrome associated with a congenital cardiopathy

ORPHA:98732

OBSOLETE: Syndrome associated with Pierre Robin syndrome

OBSOLETE: Syndrome associated with Pierre Robin sequence

ORPHA:138063

OBSOLETE: Syndromes with synostoses of limbs

ORPHA:294961

OBSOLETE: Syndromic chorioretinal dystrophy

ORPHA:519321

OBSOLETE: Syndromic developmental defect of the eye

ORPHA:108987

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

ORPHA:391479

OBSOLETE: Syndromic ichthyosis associated with ocular features

ORPHA:98699

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

ORPHA:519325

OBSOLETE: Syndromic lymphedema

ORPHA:89832

OBSOLETE: Syndromic macular dystrophy

ORPHA:519323

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

OBSOLETE: Syndromic myopia

ORPHA:98620

OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability

ORPHA:182073

OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability

ORPHA:182076

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

ORPHA:98661

OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome

ORPHA:138080

OBSOLETE: Syndromic vitreoretinopathy

ORPHA:519327

OBSOLETE: Systemic disease with cataract

ORPHA:98643

OBSOLETE: Systemic non-Langerhans cell histiocytosis

ORPHA:240266

OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome

ORPHA:3284

OBSOLETE: TACI-related selective deficiency of IgA

ORPHA:99974

OBSOLETE: Taussig-Bing syndrome

ORPHA:101042

OBSOLETE: Tay-Sachs disease, B1 variant

OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

ORPHA:309239

OBSOLETE: Terminal limb defects

OBSOLETE: Terminal meromelia

ORPHA:294929

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

ORPHA:93937

OBSOLETE: Thoracolumbosacral spina bifida aperta

ORPHA:268384

OBSOLETE: Thoracolumbosacral spina bifida cystica

ORPHA:268752

OBSOLETE: Thyroid pyramidal lobe

ORPHA:95721

OBSOLETE: Tibial hemimelia, bilateral

OBSOLETE: Tibial longitudinal meromelia, bilateral

ORPHA:295079

OBSOLETE: Tibial hemimelia, unilateral

OBSOLETE: Tibial longitudinal meromelia, unilateral

ORPHA:295077

OBSOLETE: Torres-Aybar syndrome

ORPHA:3340

OBSOLETE: Total spina bifida aperta

ORPHA:268377

OBSOLETE: Total spina bifida cystica

ORPHA:268748

OBSOLETE: Toxic or/and iatrogenic neuropathy

ORPHA:206619

OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome

ORPHA:2042

OBSOLETE: Transient neonatal arthrogryposis

ORPHA:1153

OBSOLETE: Tricho-oculo-dermo-vertebral syndrome

OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome · OBSOLETE: Alves-dos Santos-Castelo syndrome

ORPHA:3354

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

ORPHA:3360

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

ORPHA:3362

OBSOLETE: Tricuspid valve prolapse

ORPHA:95458

OBSOLETE: Trochlear nerve palsy

ORPHA:99664

OBSOLETE: True vascular thoracic outlet syndrome

ORPHA:100072

OBSOLETE: Truncal dystonia

ORPHA:93956

OBSOLETE: Tuberculous meningitis

ORPHA:499004

OBSOLETE: Type 1 interferonopathy with immunodeficiency

ORPHA:454872

OBSOLETE: Ulnar hemimelia, bilateral

OBSOLETE: Ulnar longitudinal meromelia, bilateral

ORPHA:295073

OBSOLETE: Ulnar hemimelia, unilateral

OBSOLETE: Ulnar longitudinal meromelia, unilateral

ORPHA:295075