List of rare diseases-O
From WikiMD's Food, Medicine & Wellnesspedia
NIH genetic and rare disease info[edit source]
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[edit source]
List of rare diseases-O is a rare disease.
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