Rare Disease Library

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

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

Oculomotor apraxia

Oculoosteocutaneous syndrome

Oculootodental syndrome

OOD

Oculopharyngeal muscular dystrophy

OPMD

Oculopharyngodistal myopathy

OPDM · Oculopharyngeal distal myopathy

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

Odonto-onycho dysplasia-alopecia syndrome

Odonto-onycho-dermal dysplasia

OODD

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Odonto-tricho-ungual-digito-palmar syndrome

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

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Odontohypophosphatasia

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Odontomicronychial dysplasia

Odontotrichomelic syndrome

Freire-Maia syndrome

Off-periods in Parkinson disease not responding to oral treatment

Ogden syndrome

Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Okamoto syndrome

Okihiro syndrome

Duane-radial ray syndrome

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Okihiro syndrome due to a point mutation

Duane-radial ray syndrome due to a point mutation

Okur-Chung neurodevelopmental syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Oligoarticular juvenile idiopathic arthritis

Pauciarticular chronic arthritis · Oligoarticular JIA

Oligoastrocytic tumor

Mixed oligodendroglial and astrocytic tumor

Oligoastrocytoma

MOA · Mixed oligoastrocytoma

Oligocone trichromacy

Oligocone syndrome

Oligodendroglial tumor

Oligodendroglioma

Oligodontia

Selective tooth agenesis

Oligodontia-cancer predisposition syndrome

Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

Oligomeganephronia

Oligomeganephronic renal hypoplasia

Oligosaccharidosis

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Omodysplasia