Rare Disease Library

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Acro-renal-ocular syndrome

Acute radiation syndrome

Acute radiation sickness

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Branchio-oculo-facial syndrome

BOFS

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

OBSOLETE: Oculo-skeletal-renal syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculoauriculofrontonasal syndrome

OAFNS

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Oculofaciocardiodental syndrome

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

Oculoosteocutaneous syndrome

Oculootodental syndrome

OOD

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Odonto-tricho-ungual-digito-palmar syndrome

OTUDP syndrome · Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type

Okamoto syndrome

Okihiro syndrome

Duane-radial ray syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Osteosclerotic bone dysplasia

Raine syndrome

Otodental syndrome

Globodontia · Otodental dysplasia

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Radio-renal syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

RAPADILINO syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Rotor syndrome

Hyperbilirubinemia, Rotor type

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spondylo-ocular syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome