Rare Disease Library

OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

OBSOLETE: Fitzsimmons-Guilbert syndrome

OBSOLETE: Partial prune belly syndrome

OBSOLETE: Pediatric Sjögren syndrome

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

OBSOLETE: Peters anomaly-cataract syndrome

OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

OBSOLETE: Stoll-Lévy-Francfort syndrome · OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome

OBSOLETE: Pilotto syndrome

OBSOLETE: Pitt-Hopkins-like syndrome

OBSOLETE: Platyspondylic lethal chondrodysplasia

OBSOLETE: Akaba-Hayasaka syndrome

OBSOLETE: Preeyasombat-Varavithya syndrome

OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy

OBSOLETE: Kashani-Strom-Utley syndrome

OBSOLETE: Ramsay Hunt syndrome type II

OBSOLETE: Rare non-syndromic cataract

OBSOLETE: Renier-Gabreels-Jasper syndrome

OBSOLETE: Rosselli-Gulienetti syndrome

OBSOLETE: Say-Field-Coldwell syndrome

OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

OBSOLETE: Sinus node disease-myopia syndrome

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

OBSOLETE: Casamassima-Morton-Nance syndrome

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

OBSOLETE: Syndromes with synostoses of limbs

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

OBSOLETE: Syndromic lymphedema

OBSOLETE: Syndromic macular dystrophy

OBSOLETE: Syndromic myopia

OBSOLETE: Syndromic vitreoretinopathy

OBSOLETE: Taussig-Bing syndrome

OBSOLETE: Torres-Aybar syndrome

OBSOLETE: Tricho-oculo-dermo-vertebral syndrome

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

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

OBSOLETE: True vascular thoracic outlet syndrome

OBSOLETE: Van den Bosch syndrome

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

OBSOLETE: Zlotogura-Martinez syndrome

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome