- O Donnell Pappas syndrome
- OA1 - See Ocular albinism type 1
- OAFNS - See Oculoauriculofrontonasal syndrome
- OAK - See Optic atrophy 1
- OASD - See Albinism ocular late onset sensorineural deafness
- Oat cell lung cancer - See Small cell lung cancer
- OAT deficiency - See Gyrate atrophy of choroid and retina
- OAV dysplasia - See Goldenhar disease
- OAVD - See Oculo-auriculo-vertebral spectrum
- OAVS - See Goldenhar disease
- OAVS with radial defect - See Microsomia hemifacial radial defects
- Obesity due to congenital leptin deficiency - See Obesity due to congenital leptin deficiency
- Obesity due to congenital leptin deficiency
- Obesity due to pro-opiomelanocortin deficiency - See Proopiomelanocortin deficiency
- Obesity, early-onset, adrenal insufficiency, and red hair - See Proopiomelanocortin deficiency
- Obesity, mental retardation, body asymmetry, and muscle weakness - See Camera Marugo Cohen syndrome
- Obesity, morbid, nonsyndromic 1 - See Obesity due to congenital leptin deficiency
- Oblique facial clefts - See Oculomaxillofacial dysostosis
- Obliterative bronchiolitis - See Bronchiolitis obliterans
- Obstructive disease of the pulmonary veins - See Pulmonary venoocclusive disease
- OCA - See Oculocutaneous albinism
- OCA1 - See Oculocutaneous albinism type 1
- OCA1A - See Oculocutaneous albinism type 1
- OCA1B - See Oculocutaneous albinism type 1B
- OCA2 - See Oculocutaneous albinism type 2
- OCA3 - See Oculocutaneous albinism type 3
- OCC Syndrome - See Oculocerebrocutaneous syndrome
- Occipital atretic cephalocele, unusual facies and large feet - See Zechi Ceide syndrome
- Occipital horn syndrome
- Occlusive infantile arteriopathy - See Arterial calcification of infancy
- Occlusive peripheral vascular disease - See Buerger disease
- OCCS - See Oculocerebrocutaneous syndrome
- Occult spina bifida - See Spina bifida occulta - not a rare disease
- Occult spinal dysraphism - See Tethered cord syndrome
- Occult spinal dysraphism sequence - See Tethered cord syndrome
- Ochoa syndrome
- Ochronosis
- Ochronosis, acquired - See Exogenous ochronosis
- Ochronosis, hereditary - See Alkaptonuria
- OCRL - See Lowe oculocerebrorenal syndrome
- OCRL1 - See Lowe oculocerebrorenal syndrome
- OCTD - See MASS phenotype
- Ocular albinism type 1
- Ocular albinism with sensorineural deafness - See Albinism ocular late onset sensorineural deafness
- Ocular cicatricial pemphigoid
- Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
- Ocular hypotelorism, submucosal cleft palate, and hypospadias - See Hypotelorism cleft palate hypospadias
- Ocular MD - See Ocular Muscular Dystrophy
- Ocular melanoma
- Ocular motility disorders - See Motor neuro-ophthalmic disorders
- Ocular motility disorders
- Ocular Muscular Dystrophy
- Ocular neuromyotonia
- Ocular Neuropathic Pain Syndrome - See Corneal neuropathic disease
- Ocular nonnephropathic cystinosis - See Cystinosis, ocular nonnephropathic
- Ocular toxoplasmosis
- Oculo digital syndrome
- Oculo skeletal renal syndrome
- Oculoauriculofrontonasal dysplasia - See Oculoauriculofrontonasal syndrome
- Oculoauriculofrontonasal syndrome
- Oculoauriculovertebral dysplasia - See Goldenhar disease
- Oculo-Auriculo-Vertebral Dysplasia - See Oculo-auriculo-vertebral spectrum
- Oculo-auriculo-vertebral spectrum
- Oculoauriculovertebral spectrum with radial defect - See Microsomia hemifacial radial defects
- Oculoauriculovertebral syndrome - See Goldenhar disease
- Oculo-cerebral dysplasia
- Oculocerebral hypopigmentation syndrome - See Oculocerebral syndrome with hypopigmentation
- Oculocerebral hypopigmentation syndrome type Preus
- Oculocerebral syndrome with hypopigmentation
- Oculocerebrocutaneous syndrome
- Oculo-cerebro-cutaneous syndrome - See Oculocerebrocutaneous syndrome
- Oculocerebrorenal syndrome - See Lowe oculocerebrorenal syndrome
- Oculocraniosomatic syndrome - See Kearns-Sayre syndrome
- Oculocutaneous albinism
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1A - See Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1B
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 3
- Oculocutaneous albinism tyrosinase positive - See Oculocutaneous albinism type 2
- Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies - See Kotzot-Richter syndrome
- Oculocutaneous albinism, minimal pigment type - See Albinism, minimal pigment type
- Oculocutaneous albinism, tyrosinase negative - See Oculocutaneous albinism type 1
- Oculocutaneous tyrosinemia - See Tyrosinemia type 2
- Oculodentodigital dysplasia
- Oculo-dento-digital dysplasia - See Oculodentodigital dysplasia
- Oculodentodigital dysplasia dominant
- Oculodentodigital syndrome - See Oculodentodigital dysplasia
- Oculo-dento-digital syndrome - See Oculodentodigital dysplasia
- Oculodentoosseous dysplasia recessive
- Oculodigitoesophagoduodenal syndrome - See Feingold syndrome
- Oculoectodermal syndrome
- Oculo-ectodermal syndrome - See Oculoectodermal syndrome
- Oculofaciocardiodental syndrome
- Oculogastrointestinal muscular dystrophy - See Familial visceral myopathy with external ophthalmoplegia
- Oculogastrointestinal muscular dystrophy - See Mitochondrial neurogastrointestinal encephalopathy syndrome
- Oculomaxillofacial dysostosis
- Oculomaxillofacial dysplasia with oblique facial clefts - See Oculomaxillofacial dysostosis
- Oculomelic amyoplasia - See Distal arthrogryposis type 5
- Oculomotor apraxia Cogan type
- Oculootoradial syndrome - See IVIC syndrome
- Oculopharyngeal distal myopathy - See Oculopharyngodistal myopathy
- Oculopharyngeal muscular dystrophy
- Oculopharyngodistal myopathy
- Oculorenocerebellar syndrome
- Oculosympathetic Palsy - See Horner's syndrome
- Oculotrichoanal syndrome - See Manitoba oculotrichoanal syndrome
- ODCD - See Spondylometaphyseal dysplasia with dentinogenesis imperfecta
- ODD syndrome - See Oculodentodigital dysplasia
- ODDD - See Oculodentodigital dysplasia
- ODED syndrome - See Feingold syndrome
- ODOD recessive - See Oculodentoosseous dysplasia recessive
- O'Doherty syndrome - See Ermine phenotype
- Odonto onycho dysplasia with alopecia
- Odontochondrodysplasia - See Spondylometaphyseal dysplasia with dentinogenesis imperfecta
- Odontogenic myxoma
- Odontoma
- Odontoma dysphagia syndrome
- Odontomatosis (multiple odontomas) with dysphagia - See Odontoma dysphagia syndrome
- Odontomicronychial dysplasia
- Odonto-micronychial dysplasia - See Odontomicronychial dysplasia
- Odontoonychodermal dysplasia
- Odontotrichomelic hypohidrotic dysplasia - See Odontotrichomelic syndrome
- Odontotrichomelic syndrome
- OEIS complex - See Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- OFCD syndrome - See Oculofaciocardiodental syndrome
- OFD - See Orofaciodigital syndromes
- OFD syndrome 1 - See Orofaciodigital syndrome 1
- OFD syndrome 10 - See Orofaciodigital syndrome 10
- OFD syndrome 11 - See Orofaciodigital syndrome 11
- OFD syndrome 13 - See Orofaciodigital syndrome 13
- OFD syndrome 2 - See Orofaciodigital syndrome 2
- OFD syndrome 3 - See Orofaciodigital syndrome 3
- OFD syndrome 4 - See Orofaciodigital syndrome 4
- OFD syndrome 5 - See Orofaciodigital syndrome 5
- OFD syndrome 8 - See Orofaciodigital syndrome 8
- OFD syndrome 9 - See Orofaciodigital syndrome 9
- OFD syndrome with tibial defects - See Orofaciodigital syndrome 4
- OFD1 - See Orofaciodigital syndrome 1
- OFD10 - See Orofaciodigital syndrome 10
- OFD11 - See Orofaciodigital syndrome 11
- OFD12 - See Orofaciodigital syndrome 12
- OFD13 - See Orofaciodigital syndrome 13
- OFD14 - See Orofaciodigital syndrome 14
- OFD2 - See Orofaciodigital syndrome 2
- OFD3 - See Orofaciodigital syndrome 3
- OFD4 - See Orofaciodigital syndrome 4
- OFD5 - See Orofaciodigital syndrome 5
- OFD6 - See Orofaciodigital syndrome 6
- OFD8 - See Orofaciodigital syndrome 8
- OFD9 - See Orofaciodigital syndrome 9
- OFDS 1 - See Orofaciodigital syndrome 1
- OFDS 10 - See Orofaciodigital syndrome 10
- OFDS 11 - See Orofaciodigital syndrome 11
- OFDS 12 - See Orofaciodigital syndrome 12
- OFDS 13 - See Orofaciodigital syndrome 13
- OFDS 2 - See Orofaciodigital syndrome 2
- OFDS 3 - See Orofaciodigital syndrome 3
- OFDS 4 - See Orofaciodigital syndrome 4
- OFDS 5 - See Orofaciodigital syndrome 5
- OFDS 8 - See Orofaciodigital syndrome 8
- OFDS 9 - See Orofaciodigital syndrome 9
- Ofuji disease - See Eosinophilic pustular folliculitis
- Ofuji's disease - See Eosinophilic pustular folliculitis
- OGD - See Osteoglophonic dysplasia
- Ogilvie syndrome
- Ogilvie's syndrome - See Ogilvie syndrome
- OGIMD - See Mitochondrial neurogastrointestinal encephalopathy syndrome
- Oguchi disease
- OHAHA syndrome - See Infantile onset spinocerebellar ataxia
- Ohara disease - See Tularemia
- Ohdo Blepharophimosis syndrome - See Blepharophimosis intellectual disability syndromes
- Ohdo syndrome - See Blepharophimosis intellectual disability syndromes
- OHF - See Omsk hemorrhagic fever
- OHS - See Occipital horn syndrome
- OI - See Osteogenesis imperfecta
- OI 9 - See Osteogenesis imperfecta type IX
- OI type 1 - See Osteogenesis imperfecta type I
- OI type 10 - See Osteogenesis imperfecta
- OI type 11 - Another name for Osteogenesis imperfecta type XI
- OI type 2 - See Osteogenesis imperfecta type II
- OI type 3 - See Osteogenesis imperfecta type III
- OI type 4 - See Osteogenesis imperfecta type IV
- OI type 5 - See Osteogenesis imperfecta type V
- OI type 6 - See Osteogenesis imperfecta type VI
- OI type 7 - See Osteogenesis imperfecta type VII
- OI type III - See Osteogenesis imperfecta type III
- OI type IV - See Osteogenesis imperfecta type IV
- Oi type IX - See Osteogenesis imperfecta type IX
- OI type V - See Osteogenesis imperfecta type V
- OI type VI - See Osteogenesis imperfecta type VI
- OI type VII - See Osteogenesis imperfecta type VII
- OI type VIII - See Osteogenesis imperfecta type VIII
- OI type X - See Osteogenesis imperfecta
- OI type XI - Another name for Osteogenesis imperfecta type XI
- OI with calcification in interosseous membranes - See Osteogenesis imperfecta type V
- OI11 - Another name for Osteogenesis imperfecta type XI
- OI6 - See Osteogenesis imperfecta type VI
- OI8 - See Osteogenesis imperfecta type VIII
- Okamoto syndrome
- Okihiro syndrome - See Duane-radial ray syndrome
- OKT deficiency - See Gyrate atrophy of choroid and retina
- Old Age Pemphigus - See Bullous pemphigoid
- Olfacto-genital pathological sequence - See Kallmann syndrome
- Olfactory neuroblastoma
- Oligoarthritis, juvenile - See Pauciarticular onset juvenile idiopathic arthritis
- Oligoarticular onset juvenile idiopathic arthritis - See Pauciarticular onset juvenile idiopathic arthritis
- Oligoastrocytoma
- Oligodactyly tetramelic postaxial
- Oligodendroglioma
- Oligohydramnios sequence - See Potter sequence
- Oligomeganephronia - See Oligomeganephronic renal hypoplasia
- Oligomeganephronic renal hypoplasia
- Oligophrenia phenylpyruvica - See Phenylketonuria
- Oligophrenin-1 syndrome - See OPHN1 syndrome
- Oliver McFarlane syndrome - See Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
- Oliver syndrome
- Olivopontocerebellar atrophy
- Olivopontocerebellar atrophy 1 - See Spinocerebellar ataxia 1
- Olivopontocerebellar atrophy 2 - See Spinocerebellar ataxia 2
- Olivopontocerebellar atrophy 3 - See Spinocerebellar ataxia 7
- Olivopontocerebellar atrophy 4 - See Spinocerebellar ataxia 1
- Olivopontocerebellar atrophy deafness
- Olivopontocerebellar atrophy Holguin type - See Spinocerebellar ataxia 2
- Olivopontocerebellar hypoplasia fetal-onset - See Pontocerebellar hypoplasia type 5
- Ollier disease
- Olmsted syndrome
- OMA syndrome - See Opsoclonus-myoclonus syndrome
- Omenn syndrome
- OMM syndrome - See Pillay syndrome
- OMOD1 - See Omodysplasia 1
- OMOD2 - See Omodysplasia 2
- Omodysplasia 1
- Omodysplasia 2
- Omodysplasia autosomal recessive - See Omodysplasia 1
- Omodysplasia generalized form - See Omodysplasia 1
- Omodysplasia, autosomal dominant - See Omodysplasia 2
- Omphalocele - cloacal exstrophy - imperforate anus - spinal defect - See Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- Omphalocele cleft palate syndrome lethal
- Omphalocele syndrome, Shprintzen-Goldberg type - See Shprintzen omphalocele syndrome
- Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis - SeeShprintzen omphalocele syndrome
- Omphalocele, diaphragmatic hernia, and radial ray defects - See Gershoni-Baruch syndrome
- Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects - See Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- Omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies - SeeShprintzen omphalocele syndrome
- Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome - See Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- Omphalomesenteric cyst
- OMS - See Opsoclonus-myoclonus syndrome
- Omsk hemorrhagic fever
- Onat syndrome - See Subaortic stenosis short stature syndrome
- Onchocerciasis
- Oncocytic cardiomyopathy - See Infantile histiocytoid cardiomyopathy
- Oncocytoma kidney - See Renal oncocytoma
- Oncocytoma renal - See Renal oncocytoma
- Oncogenic hypophosphatemic osteomalacia - See Oncogenic osteomalacia
- Oncogenic osteomalacia
- Ondine curse (formerly) - See Congenital central hypoventilation syndrome
- Ondine's curse (formerly) - See Congenital central hypoventilation syndrome
- Onion whorl disease - See Localized hypertrophic neuropathy
- Onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis - See Ruvalcaba Churesigaew Myhre syndrome
- Onychocytic matricoma
- Onychodystrophy totalis - See Twenty-nail dystrophy
- Onychodystrophy-anonychia
- Onychoosteodysplasia - See Nail-patella syndrome
- Onychotrichodysplasia and neutropenia
- OOCH - See Osteoporosis oculocutaneous hypopigmentation syndrome
- OOCH syndrome - See Osteoporosis oculocutaneous hypopigmentation syndrome
- OORS - See IVIC syndrome
- OPA1 - See Optic atrophy 1
- OPA2 - See Optic atrophy 2
- OPA3 - See Autosomal dominant optic atrophy and cataract
- OPA3 defect
- OPA3, autosomal dominant - See Autosomal dominant optic atrophy and cataract
- OPA6 - See Optic atrophy 6
- OPCA - See Olivopontocerebellar atrophy
- OPCA III - See Spinocerebellar ataxia 7
- OPCA with macular degeneration and external ophthalmoplegia - See Spinocerebellar ataxia 7
- OPCA with retinal degeneration - See Spinocerebellar ataxia 7
- OPCA1 - See Spinocerebellar ataxia 1
- OPCA3 - See Spinocerebellar ataxia 7
- OPCA4 - See Spinocerebellar ataxia 1
- OPD 2 syndrome - See Oto-palato-digital syndrome type 2
- OPD syndrome - See Oto-palato-digital syndrome type 1
- OPD syndrome 1 - See Oto-palato-digital syndrome type 1
- OPD1 - See Oto-palato-digital syndrome type 1
- OPDM - See Oculopharyngodistal myopathy
- Open spine - See Spina bifida
- OPHN1 Deficiency - See OPHN1 syndrome
- OPHN1- related XLID - See OPHN1 syndrome
- OPHN1 syndrome
- OPHN1 XLMR - See OPHN1 syndrome
- OPHN1 XLMR, X-linked intellectual disability - See OPHN1 syndrome
- Ophthalmoacromelic syndrome - See Anophthalmos with limb anomalies
- Ophthalmo-mandibulo-melic dysplasia - See Pillay syndrome
- Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis - See Infantile onset spinocerebellar ataxia
- Ophthalmoplegia plus syndrome - See Kearns-Sayre syndrome
- Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis - See Infantile onset spinocerebellar ataxia
- Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy - See Kearns-Sayre syndrome
- Ophthalmoplegia, progressive external, with ragged red fibers - See Kearns-Sayre syndrome
- Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome - See Infantile onset spinocerebellar ataxia
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - See Levic Stefanovic Nikolic syndrome
- Ophthalmoplegic MD - See Ophthalmoplegic Muscular dystrophy
- Ophthalmoplegic Muscular dystrophy
- Opisthorchiasis
- Opitz BBBG syndrome - See Opitz G/BBB syndrome
- Opitz G/BBB syndrome
- Opitz Mollica Sorge syndrome - See Acrofacial dysostosis Catania type
- Opitz trigonocephaly syndrome - See C syndrome
- Opitz trigonocephaly-like syndrome - See Bohring-Opitz syndrome
- Opitz-Frias syndrome - See Opitz G/BBB syndrome
- Opitz-G syndrome, type 2 - See Opitz G/BBB syndrome
- Opitz-Kaveggia syndrome - See FG syndrome
- OPLL - See Ossification of the posterior longitudinal ligament of the spine - not a rare disease
- OPMD - See Oculopharyngeal muscular dystrophy
- Oppenheim disease - See Amyotonia congenita
- Oppenheim's disease - See Amyotonia congenita
- Oppenheim's dystonia - See DYT-TOR1A
- OPPG - See Osteoporosis-pseudoglioma syndrome
- OPS - See Osteoporosis-pseudoglioma syndrome
- Opsismodysplasia
- Opsoclonus myoclonus syndrome - See Opsoclonus-myoclonus syndrome
- Opsoclonus-myoclonus syndrome
- Opsoclonus-myoclonus-ataxia syndrome - See Opsoclonus-myoclonus syndrome
- OPTA1 - See Osteopetrosis autosomal dominant type 1
- OPTA2 - See Osteopetrosis autosomal dominant type 2
- OPTB1 - See Osteopetrosis autosomal recessive 1
- OPTB2 - See Osteopetrosis autosomal recessive 2
- OPTB3 - See Osteopetrosis autosomal recessive 3
- OPTB4 - See Osteopetrosis autosomal recessive 4
- OPTB5 - See Osteopetrosis autosomal recessive 5
- OPTB6 - See Osteopetrosis autosomal recessive 6
- OPTB7 - See Osteopetrosis autosomal recessive 7
- Opthalmic icthyosis
- Opthalmomandibulomelic dysplasia
- Opthalmoplegia myalgia tubular aggregates
- Opthalmoplegia progressive external scoliosis
- Optic atrophy - deafness- polyneuropathy - myopathy - See Autosomal dominant optic atrophy plus syndrome
- Optic atrophy 1
- Optic atrophy 1 and deafness
- Optic atrophy 2
- Optic atrophy 3 - See OPA3 defect
- Optic atrophy 3 - See Autosomal dominant optic atrophy and cataract
- Optic atrophy 3 with cataract - See Autosomal dominant optic atrophy and cataract
- Optic atrophy 5
- Optic atrophy 6
- Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss - See Behr syndrome
- Optic atrophy infantile with chorea and spastic paraplegia - See OPA3 defect
- Optic atrophy opthalmoplegia ptosis deafness myopia
- Optic atrophy plus syndrome - See OPA3 defect
- Optic atrophy polyneuropathy deafness
- Optic atrophy type 1 - See Optic atrophy 1
- OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY - SeeAutosomal dominant optic atrophy plus syndrome
- Optic atrophy, cataract, and neurologic disorder - See Autosomal dominant optic atrophy and cataract
- Optic atrophy, congenital or early infantile, autosomal recessive - See Optic atrophy 6
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive - See Optic atrophy polyneuropathy deafness
- Optic atrophy, infantile hereditary, Behr complicated form of - See Behr syndrome
- Optic atrophy, juvenile - See Optic atrophy 1
- Optic atrophy, Kjer type - See Optic atrophy 1
Workforce and Patient Safety. April 24, 2024
Hace 7 horas
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