List of rare diseases-O

NIH genetic and rare disease info

• NIH info on List of rare diseases-O

List of rare diseases-O is a rare disease.

• O Donnell Pappas syndrome
• OA1
• OAFNS
• OAK
• OASD
• Oat cell lung cancer
• OAT deficiency
• OAV dysplasia
• OAVD
• OAVS
• OAVS with radial defect
• Obesity due to congenital leptin deficiency
• Obesity due to congenital leptin deficiency
• Obesity due to pro-opiomelanocortin deficiency
• Obesity, early-onset, adrenal insufficiency, and red hair
• Obesity, mental retardation, body asymmetry, and muscle weakness
• Obesity, morbid, nonsyndromic 1
• Oblique facial clefts
• Obliterative bronchiolitis
• OBSOLETE: Behr syndrome
• OBSOLETE: Benign essential blepharospasm
• OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome
• OBSOLETE: Hereditary motor and sensory neuropathy - Another name for Hereditary motor and sensory neuropathy
• OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome
• OBSOLETE: Preaxial polydactyly of fingers
• OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome
• Obstructive disease of the pulmonary veins
• OCA
• OCA1
• OCA1A
• OCA1B
• OCA2
• OCA3
• OCC Syndrome
• Occipital atretic cephalocele, unusual facies and large feet
• Occipital horn syndrome
• Occlusive infantile arteriopathy
• Occlusive peripheral vascular disease
• OCCS
• Occult spina bifida- not a rare disease.
• Occult spinal dysraphism
• Occult spinal dysraphism sequence
• Ochoa syndrome
• Ochronosis
• Ochronosis, acquired
• Ochronosis, hereditary
• OCRL
• OCRL1
• OCTD
• Ocular albinism type 1
• Ocular albinism with sensorineural deafness
• Ocular cicatricial pemphigoid
• Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
• Ocular hypotelorism, submucosal cleft palate, and hypospadias
• Ocular MD
• Ocular melanoma
• Ocular Muscular Dystrophy
• Ocular neuromyotonia
• Ocular Neuropathic Pain Syndrome
• Ocular nonnephropathic cystinosis
• Ocular toxoplasmosis
• Ocular-scoliotic EDS
• Oculo digital syndrome
• Oculo skeletal renal syndrome
• Oculoauriculofrontonasal dysplasia
• Oculoauriculofrontonasal syndrome
• Oculoauriculovertebral dysplasia
• Oculo-Auriculo-Vertebral Dysplasia
• Oculo-auriculo-vertebral spectrum
• Oculoauriculovertebral spectrum with radial defect
• Oculoauriculovertebral syndrome
• Oculo-cerebral dysplasia
• Oculocerebral hypopigmentation syndrome
• Oculocerebral hypopigmentation syndrome type Preus
• Oculocerebral syndrome with hypopigmentation
• Oculocerebrocutaneous syndrome
• Oculo-cerebro-cutaneous syndrome
• Oculocerebrorenal syndrome
• Oculocraniosomatic syndrome
• Oculocutaneous albinism
• Oculocutaneous albinism type 1
• Oculocutaneous albinism type 1A
• Oculocutaneous albinism type 1B
• Oculocutaneous albinism type 2
• Oculocutaneous albinism type 3
• Oculocutaneous albinism tyrosinase positive
• Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies
• Oculocutaneous albinism, minimal pigment type
• Oculocutaneous albinism, tyrosinase negative
• Oculocutaneous tyrosinemia
• Oculodentodigital dysplasia
• Oculo-dento-digital dysplasia
• Oculodentodigital dysplasia dominant
• Oculodentodigital syndrome
• Oculo-dento-digital syndrome
• Oculodentoosseous dysplasia recessive
• Oculodigitoesophagoduodenal syndrome
• Oculoectodermal syndrome
• Oculo-ectodermal syndrome
• Oculofaciocardiodental syndrome
• Oculogastrointestinal muscular dystrophy
• Oculogastrointestinal muscular dystrophy
• Oculomandibulofacial syndrome
• Oculomaxillofacial dysostosis
• Oculomaxillofacial dysplasia with oblique facial clefts
• Oculomelic amyoplasia
• Oculomotor apraxia Cogan type
• Oculootoradial syndrome
• Oculopharyngeal distal myopathy
• Oculopharyngeal muscular dystrophy
• Oculopharyngodistal myopathy
• Oculorenocerebellar syndrome
• Oculosympathetic Palsy
• Oculotrichoanal syndrome
• ODCD
• ODD syndrome
• ODDD
• ODED syndrome
• ODOD recessive
• O'Doherty syndrome
• Odonto onycho dysplasia with alopecia
• Odontochondrodysplasia
• Odontogenic myxoma
• Odontoma
• Odontoma dysphagia syndrome
• Odontomatosis (multiple odontomas) with dysphagia
• Odontomicronychial dysplasia
• Odonto-micronychial dysplasia
• Odontoonychodermal dysplasia
• Odontotrichomelic hypohidrotic dysplasia
• Odontotrichomelic syndrome
• OEIS complex
• OFCD syndrome
• OFD
• OFD syndrome 1
• OFD syndrome 10
• OFD syndrome 11
• OFD syndrome 13
• OFD syndrome 2
• OFD syndrome 3
• OFD syndrome 4
• OFD syndrome 5
• OFD syndrome 8
• OFD syndrome 9
• OFD syndrome with tibial defects
• OFD1
• OFD10
• OFD11
• OFD12
• OFD13
• OFD14
• OFD2
• OFD3
• OFD4
• OFD5
• OFD6
• OFD8
• OFD9
• OFDS 1
• OFDS 10
• OFDS 11
• OFDS 12
• OFDS 13
• OFDS 2
• OFDS 3
• OFDS 4
• OFDS 5
• OFDS 8
• OFDS 9
• Ofuji disease
• Ofuji's disease
• OGD
• Ogilvie syndrome
• Ogilvie's syndrome
• OGIMD
• Oguchi disease
• OHAHA syndrome
• Ohara disease
• Ohdo Blepharophimosis syndrome
• Ohdo syndrome
• OHF
• OHS
• OI
• OI 9
• OI type 1
• OI type 10
• OI type 11
• OI type 2
• OI type 3
• OI type 4
• OI type 5
• OI type 6
• OI type 7
• OI type III
• OI type IV
• Oi type IX
• OI type V
• OI type VI
• OI type VII
• OI type VIII
• OI type X
• OI type XI
• OI with calcification in interosseous membranes
• OI11
• OI6
• OI8
• Okamoto syndrome
• Okihiro syndrome
• OKT deficiency
• Old Age Pemphigus
• Olfacto-genital pathological sequence
• Olfactory neuroblastoma
• Oligoarthritis, juvenile
• Oligoarticular onset juvenile idiopathic arthritis
• Oligoastrocytoma
• Oligodactyly tetramelic postaxial
• Oligodendroglioma
• Oligohydramnios sequence
• Oligomeganephronia
• Oligomeganephronic renal hypoplasia
• Oligophrenia phenylpyruvica
• Oligophrenin-1 syndrome
• Oliver McFarlane syndrome
• Oliver syndrome
• Olivopontocerebellar atrophy
• Olivopontocerebellar atrophy 1
• Olivopontocerebellar atrophy 2
• Olivopontocerebellar atrophy 3
• Olivopontocerebellar atrophy 4
• Olivopontocerebellar atrophy deafness
• Olivopontocerebellar atrophy Holguin type
• Olivopontocerebellar hypoplasia fetal-onset
• Ollier disease
• Olmsted syndrome
• OMA syndrome
• Omenn syndrome
• OMM syndrome
• OMOD1
• OMOD2
• Omodysplasia 1
• Omodysplasia 2
• Omodysplasia autosomal recessive
• Omodysplasia generalized form
• Omodysplasia, autosomal dominant
• Omphalocele - cloacal exstrophy - imperforate anus - spinal defect
• Omphalocele cleft palate syndrome lethal
• Omphalocele syndrome, Shprintzen-Goldberg type
• Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis
• Omphalocele, diaphragmatic hernia, and radial ray defects
• Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
• Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
• Omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies
• Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
• Omphalomesenteric cyst
• OMS
• Omsk hemorrhagic fever
• Onat syndrome
• Onchocerciasis
• Oncocytic cardiomyopathy
• Oncocytoma kidney
• Oncocytoma renal
• Oncogenic hypophosphatemic osteomalacia
• Oncogenic osteomalacia
• Ondine curse (formerly)
• Ondine's curse (formerly)
• Onion whorl disease
• Onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis
• Onychocytic matricoma
• Onychodystrophy totalis
• Onychodystrophy-anonychia
• Onychoosteodysplasia
• Onychotrichodysplasia and neutropenia
• OOCH
• OOCH syndrome
• OORS
• OPA1
• OPA2
• OPA3
• OPA3 defect
• OPA3, autosomal dominant
• OPA6
• OPCA
• OPCA III
• OPCA with macular degeneration and external ophthalmoplegia
• OPCA with retinal degeneration
• OPCA1
• OPCA3
• OPCA4
• OPD 2 syndrome
• OPD syndrome
• OPD syndrome 1
• OPD1
• OPDM
• Open spine
• OPHN1 Deficiency
• OPHN1- related XLID
• OPHN1 syndrome
• OPHN1 XLMR
• OPHN1 XLMR, X-linked intellectual disability
• Ophthalmoacromelic syndrome
• Ophthalmo-mandibulo-melic dysplasia
• Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
• Ophthalmoplegia plus syndrome
• Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis
• Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy
• Ophthalmoplegia, progressive external, with ragged red fibers
• Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
• Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
• Ophthalmoplegic MD
• Ophthalmoplegic Muscular dystrophy
• Opisthorchiasis
• Opitz BBBG syndrome
• Opitz G/BBB syndrome
• Opitz Mollica Sorge syndrome
• Opitz trigonocephaly syndrome
• Opitz trigonocephaly-like syndrome
• Opitz-Frias syndrome
• Opitz-G syndrome, type 2
• Opitz-Kaveggia syndrome
• OPLL- not a rare disease.
• OPMD
• Oppenheim disease
• Oppenheim's disease
• Oppenheim's dystonia
• OPPG
• OPS
• Opsismodysplasia
• Opsoclonus myoclonus syndrome
• Opsoclonus-myoclonus syndrome
• Opsoclonus-myoclonus-ataxia syndrome
• OPTA1
• OPTA2
• OPTB1
• OPTB2
• OPTB3
• OPTB4
• OPTB5
• OPTB6
• OPTB7
• Opthalmomandibulomelic dysplasia
• Optic atrophy - deafness- polyneuropathy - myopathy
• Optic atrophy 1
• Optic atrophy 1 and deafness
• Optic atrophy 2
• Optic atrophy 3
• Optic atrophy 3
• Optic atrophy 3 with cataract
• Optic atrophy 5
• Optic atrophy 6
• Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
• Optic atrophy infantile with chorea and spastic paraplegia
• Optic atrophy plus syndrome
• Optic atrophy polyneuropathy deafness
• Optic atrophy type 1
• OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
• Optic atrophy, cataract, and neurologic disorder
• Optic atrophy, congenital or early infantile, autosomal recessive
• Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
• Optic atrophy, infantile hereditary, Behr complicated form of
• Optic atrophy, juvenile
• Optic atrophy, Kjer type
• Optic atrophy, Leber type
• Optic atrophy, neural deafness, and distal neurogenic amyotrophy
• Optic atrophy, non-Leber type, with early onset
• Optic atrophy, polyneuropathy, and deafness
• Optic atrophy, sensorineural hearing loss and polyneuropathy
• Optic atrophy, X-linked
• Optic atrophy-deafness-polyneuropathy-myopathy syndrome
• Optic coloboma, vesicoureteral reflux, and renal anomalies
• Optic nerve coloboma
• Optic nerve coloboma with renal disease
• Optic nerve head pits, bilateral congenital
• Optic nerve hypoplasia, familial bilateral
• Optic neuritis
• Optic pathway glioma
• Oral and digital anomalies with ichthyosis
• Oral cancer
• Oral facial digital syndrome 1
• Oral facial digital syndrome 10
• Oral facial digital syndrome 11
• Oral facial digital syndrome 12
• Oral facial digital syndrome 13
• Oral facial digital syndrome 2
• Oral facial digital syndrome 3
• Oral facial digital syndrome 4
• Oral facial digital syndrome 5
• Oral facial digital syndrome 8
• Oral facial digital syndrome 9
• Oral facial digital syndrome type 1
• Oral facial digital syndrome type 10
• Oral facial digital syndrome type 11
• Oral facial digital syndrome type 12
• Oral facial digital syndrome type 13
• Oral facial digital syndrome type 2
• Oral facial digital syndrome type 3
• Oral facial digital syndrome type 4
• Oral facial digital syndrome type 5
• Oral facial digital syndrome type 8
• Oral facial digital syndrome type 9
• Oral facial digital syndromes
• Oral facial dystonia
• Oral gangrene
• Oral leukoplakia
• Oral lichen planus- not a rare disease.
• Oral lichenoid lesions- not a rare disease.
• Oral squamous cell carcinoma
• Oral submucous fibrosis
• Oral-facial-digital syndrome
• Oral-facial-digital syndrome 1
• Oral-facial-digital syndrome 10
• Oral-facial-digital syndrome 12
• Oral-facial-digital syndrome 13
• Oral-facial-digital syndrome 5
• Oral-facial-digital syndrome type 1
• Oral-facial-digital syndrome type 11
• Oral-facial-digital syndrome type 12
• Oral-facial-digital syndrome type 13
• Oral-facial-digital syndrome type 14
• Oral-facial-digital syndrome type 2
• Oral-facial-digital syndrome type 3
• Oral-facial-digital syndrome type 4
• Oral-facial-digital syndrome type 6
• Oral-facial-digital syndrome type 8
• Oral-facial-digital syndrome type 9
• Oral-facial-digital syndrome with fibular aplasia
• Oral-facial-digital syndrome with hypoplastic epiglottis
• Oral-facial-digital syndrome with retinal abnormalities
• Oral-facial-digital syndrome with skeletal anomalies
• Oral-facial-digital syndrome XIII
• Oral-facial-digital syndromes
• Orbital cyst with cerebral and focal dermal malformations
• Orbital lymphangioma
• Orbital lymphoma
• Orbital melanoma
• Orbital varix
• Orbital venous varix
• ORC syndrome
• Orchidoblastoma
• Oregon type tyrosinemia
• Organic acidemia
• Organic mood syndrome
• Organizing pneumonia
• Organoid nevus phakomatosis
• Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies
• Ormond disease
• Ormond's disease
• Ornithine aminotransferase deficiency
• Ornithine carbamoyltransferase deficiency
• Ornithine ketoacid aminotransferase deficiency
• Ornithine transcarbamylase deficiency
• Ornithine translocase deficiency
• Ornithine translocase deficiency syndrome
• Ornithinemia
• Ornithosis
• Oroacral syndrome
• Orocraniodigital syndrome
• Orofacial cleft 11
• Oro-facial gangrene
• Orofacial Granulomatosis
• Oro-facial noma
• Orofaciodigital syndrome
• Orofaciodigital syndrome 1
• Orofaciodigital syndrome 10
• Orofaciodigital syndrome 11
• Orofaciodigital syndrome 12
• Orofaciodigital syndrome 13
• Orofaciodigital syndrome 14
• Orofaciodigital syndrome 2
• Orofaciodigital syndrome 3
• Orofaciodigital syndrome 4
• Orofaciodigital syndrome 5
• Orofaciodigital syndrome 6
• Orofaciodigital syndrome 8
• Orofaciodigital syndrome 9
• Orofaciodigital syndrome I
• Orofaciodigital syndrome II
• Orofaciodigital syndrome III
• Orofaciodigital syndrome IV
• Orofaciodigital syndrome IX
• Orofaciodigital syndrome type 12
• Orofaciodigital syndrome type 13
• Orofaciodigital syndrome type 14
• Orofaciodigital syndrome type 6
• Orofaciodigital syndrome type 8
• Orofaciodigital syndrome type Figuera
• Orofaciodigital syndrome V
• Orofaciodigital syndrome VIII
• Orofaciodigital syndrome with fibular aplasia
• Orofaciodigital syndrome with retinal abnormalities
• Orofaciodigital syndrome with tibial dysplasia
• Orofaciodigital syndrome X
• Orofaciodigital syndrome XI
• Orofaciodigital syndrome XII
• Orofaciodigital syndrome XIII
• Orofaciodigital syndromes
• Oro-mandibular-limb hypogenesis syndrome
• Oropharyngeal cancer, adult
• Oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein
• Orotate phosphoribosyltransferase and omp decarboxylase deficiency
• Orotic aciduria II (formerly)
• Orotic aciduria type 1
• Oroticaciduria 1
• Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
• Orstavik Lindemann Solberg syndrome
• Orthostatic hypotension (a symptom)
• Orthostatic intolerance due to NET deficiency
• Orthostatic tremor, primary
• ORW disease
• ORW2
• ORW3
• osASD
• OSCS
• Osebold-Remondini syndrome
• Oslam syndrome
• Osler Weber Rendu syndrome
• Osler Weber Rendu syndrome type 2
• Osler Weber Rendu syndrome type 3
• Osler-Rendu-Weber disease
• OSMED
• OSMED Syndrome
• OSMF
• Ossicular Malformations, familial
• Ossification of the posterior longitudinal ligament of the spine- not a rare disease.
• Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
• Ossifying fibroma
• Osteitis deformans- not a rare disease.
• Osteoarthropathy of fingers familial
• Osteoarthropathy, premature degenerative, of hip
• Osteochondritis deformans
• Osteochondritis dissecans
• Osteochondritis dissecans, short stature, and early-onset osteoarthritis
• Osteochondritis of tarsal/metatarsal bone
• Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
• Osteochondrodysplasias- not a rare disease.
• Osteochondroma
• Osteochondromuscular dystrophy
• Osteochondrosis
• Osteochondrosis deformans tibiae
• Osteochondrosis deformans tibiae, familial infantile type
• Osteochondrosis of the metatarsal head, usually the second
• Osteochondrosis of the tarsal bone
• Osteoclastoma
• Osteocraniosplenic syndrome
• Osteocraniostenosis
• Osteodysgenesis, multisynostotic with fractures
• Osteodysplasia familial Anderson type
• Osteodysplastic primordial dwarfism type 2
• Osteodysplastic primordial dwarfism type I
• Osteodysplasty of Melnick and Needles
• Osteodysplasty precocious of Danks Mayne and Kozlowski
• Osteofibrous dysplasia
• Osteogenesis imperfecta
• Osteogenesis imperfecta congenita
• Osteogenesis imperfecta congenita perinatal lethal form
• Osteogenesis imperfecta Levin type
• Osteogenesis imperfecta ocular form
• Osteogenesis imperfecta retinopathy seizures intellectual deficit
• Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen
• Osteogenesis imperfecta tarda
• Osteogenesis imperfecta type
• Osteogenesis imperfecta type 10
• Osteogenesis imperfecta type 11
• Osteogenesis imperfecta type 2
• Osteogenesis imperfecta type 8
• Osteogenesis imperfecta type 9
• Osteogenesis imperfecta type I
• Osteogenesis imperfecta type II
• Osteogenesis imperfecta type III
• Osteogenesis imperfecta type IV
• Osteogenesis imperfecta type IX
• Osteogenesis imperfecta type V
• Osteogenesis imperfecta type VI
• Osteogenesis imperfecta type VII
• Osteogenesis imperfecta type VIII
• Osteogenesis imperfecta type X
• Osteogenesis imperfecta type XI
• Osteogenesis imperfecta with blue sclerae
• Osteogenesis imperfecta with congenital joint contractures
• Osteogenesis imperfecta with normal sclerae
• Osteogenesis imperfecta with unusual skeletal lesions
• Osteogenesis imperfecta, progressively deforming with normal sclerae
• Osteogenic sarcoma
• Osteoglophonic dwarfism
• Osteoglophonic dysplasia
• Osteolysis massive
• Osteolysis syndrome recessive
• Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance
• Osteolysis, familial expansile
• Osteomalacia
• Osteomesopyknosis
• Osteomyelitis
• Osteo-Onychodysplasia
• Osteopathia condensans disseminata
• Osteopathia condensans disseminata
• Osteopathia striata - cranial sclerosis
• Osteopathia striata associated with familial dermopathy and white forelock
• Osteopathia striata cranial sclerosis
• Osteopathia striata with pigmentary dermopathy including white forelock
• Osteopathia striata-cranial sclerosis syndrome
• Osteopenia and sparse hair
• Osteopenia mental retardation sparse hair
• Osteopetroses
• Osteopetrosis
• Osteopetrosis and infantile neuroaxonal dystrophy
• Osteopetrosis and related disorders
• Osteopetrosis autosomal dominant type 1
• Osteopetrosis autosomal dominant type 2
• Osteopetrosis autosomal recessive 1
• Osteopetrosis autosomal recessive 2
• Osteopetrosis autosomal recessive 3
• Osteopetrosis autosomal recessive 4
• Osteopetrosis autosomal recessive 5
• Osteopetrosis autosomal recessive 6
• Osteopetrosis autosomal recessive 7
• Osteopetrosis autosomal recessive intermediate form
• Osteopetrosis infantile malignant 1
• Osteopetrosis infantile malignant 2
• Osteopetrosis infantile malignant 3
• Osteopetrosis osteoclast-poor
• Osteopetrosis osteoclast-poor with hypogammaglobulinemia
• Osteopetrosis with renal tubular acidosis
• Osteopoikilosis
• Osteopoikilosis and dacryocystitis
• Osteopoikilosis-short stature-intellectual disability syndrome
• Osteoporosis oculocutaneous hypopigmentation syndrome
• Osteoporosis pseudoglioma syndrome
• Osteoporosis, juvenile
• Osteoporosis-pseudoglioma syndrome
• Osteopsathyrosis
• Osteosarcoma
• Osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia
• Osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow
• Osteosclerosis fragilis
• Osteosclerosis of the skull and enlarged mandible
• Osteosclerosis with ichthyosis and POF
• Osteosclerosis with ichthyosis and premature ovarian failure
• Osteosclerosis, autosomal dominant
• Osteosclerosis, autosomal dominant, Worth type
• Ostertag type amyloidosis
• Ostium primum ASD
• Ostium secundum ASD
• Ostium secundum atrial septal defect
• Ostravik-Lindemann-Solberg syndrome
• OT
• OTC deficiency
• OTCD
• Otodental dysplasia
• Otofaciocervical syndrome
• Otoonychoperoneal syndrome
• Oto-onycho-peroneal syndrome
• Oto-Palatal-digital syndrome
• Otopalatodigital syndrome type 1
• Oto-palato-digital syndrome type 1
• Otopalatodigital syndrome type 2
• Oto-palato-digital syndrome type 2
• Otosclerosis, familial
• Otospondylomegaepiphyseal dysplasia
• Oto-Spondylo-Mega-Epiphyseal Dysplasia
• Otto syndrome
• Otulipenia
• OTX2-related eye disorders
• Oudtshoorn skin
• Ouvrier Billson syndrome
• Ovarian Brenner tumor
• Ovarian cancer
• Ovarian cancer, epithelial
• Ovarian carcinoma
• Ovarian carcinosarcoma
• Ovarian dysgenesis with sensorineural deafness
• Ovarian epithelial cancer
• Ovarian epithelial carcinoma
• Ovarian germ cell tumor
• Ovarian gynandroblastoma
• Ovarian insufficiency, familial
• Ovarian low malignant potential tumor
• Ovarian malignant mixed epithelial mesenchymal tumor
• Ovarian malignant mixed Müllerian tumor
• Ovarian remnant syndrome
• Ovarian sex cord tumor with annular tubules
• Ovarian sex cord-stromal tumor
• Ovarian small cell carcinoma
• Overgrowth - craniosynostosis - arthrogryposis
• Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
• Overhydrated hereditary stomatocytosis
• Overlap connective tissue disease
• Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
• Ovoid pupils
• Oxalosis 1
• Oxalosis 2
• Oxoglutaricaciduria
• Oxoprolinase deficiency
• Oxoprolinuria due to 5-oxoprolinase deficiency

NIH genetic and rare disease info

• NIH info on List of rare diseases-O

List of rare diseases-O is a rare disease.