Rare Disease Library

Omphalocele

Omphalocele syndrome, Shprintzen-Goldberg type

Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

Gershoni-Baruch syndrome

Omphalomesenteric cyst

Omsk hemorrhagic fever

Onchocerciasis

Oncogenic osteomalacia

Oncogenic hypophosphatemic osteomalacia · TIO

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Onychocytic matricoma

Acanthoma of the nail matrix

Onychomatricoma

Open iniencephaly

Open spinal dysraphism

Spina bifida aperta · Open spina bifida

Open spinal dysraphism with a myelomeningocele

Myelomeningocele · MMC

Open spinal dysraphism with a posterior meningocele

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

Opsismodysplasia

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Optic disc pit

Optic pathway glioma

Oral submucous fibrosis

OSMF

Orbital leiomyoma

Organic aciduria

Orgasm-induced epilepsy

Orofacial clefting syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Orofaciodigital syndrome type 1

OFD1 · OFDI

Orofaciodigital syndrome type 11

OFD11 · Oral-facial-digital syndrome type 11

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Orofaciodigital syndrome type 18

OFD18 · Oral-facial-digital syndrome type 18

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Orofaciodigital syndrome type 8

OFD8 · Oral-facial-digital syndrome type 8

Orofaciodigital syndrome type 9

Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities

Oromandibular dystonia

Oromandibular-limb anomalies syndrome

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

Oroya fever

Osgood-Schlatter disease

Aseptic necrosis of the tibial tubercle · Osteochondrosis of the tibial tubercle