- Optic atrophy, Leber type - See Leber hereditary optic neuropathy
- Optic atrophy, neural deafness, and distal neurogenic amyotrophy - See Optic atrophy polyneuropathy deafness
- Optic atrophy, non-Leber type, with early onset - See Optic atrophy 2
- Optic atrophy, polyneuropathy, and deafness - See Charcot-Marie-Tooth disease
- Optic atrophy, sensorineural hearing loss and polyneuropathy - See Charcot-Marie-Tooth disease
- Optic atrophy, X-linked - See Optic atrophy 2
- Optic atrophy-deafness-polyneuropathy-myopathy syndrome - See Autosomal dominant optic atrophy plus syndrome
- Optic coloboma, vesicoureteral reflux, and renal anomalies - See Renal coloboma syndrome
- Optic nerve coloboma - See Coloboma of optic nerve
- Optic nerve coloboma with renal disease - See Renal coloboma syndrome
- Optic nerve head pits, bilateral congenital - See Coloboma of optic nerve
- Optic nerve hypoplasia, familial bilateral
- Optic neuritis
- Optic pathway glioma
- Opticoacoustic nerve atrophy dementia
- Opticoacustic nerve atrophy with dementia - See Jensen syndrome
- Oral and digital anomalies with ichthyosis - See Ichthyosis tapered fingers midline groove up
- Oral cancer
- Oral facial digital syndrome 1 - See Orofaciodigital syndrome 1
- Oral facial digital syndrome 10 - See Orofaciodigital syndrome 10
- Oral facial digital syndrome 11 - See Orofaciodigital syndrome 11
- Oral facial digital syndrome 12 - See Orofaciodigital syndrome 12
- Oral facial digital syndrome 13 - See Orofaciodigital syndrome 13
- Oral facial digital syndrome 2 - See Orofaciodigital syndrome 2
- Oral facial digital syndrome 3 - See Orofaciodigital syndrome 3
- Oral facial digital syndrome 4 - See Orofaciodigital syndrome 4
- Oral facial digital syndrome 5 - See Orofaciodigital syndrome 5
- Oral facial digital syndrome 8 - See Orofaciodigital syndrome 8
- Oral facial digital syndrome 9 - See Orofaciodigital syndrome 9
- Oral facial digital syndrome type 1 - See Orofaciodigital syndrome 1
- Oral facial digital syndrome type 10 - See Orofaciodigital syndrome 10
- Oral facial digital syndrome type 11 - See Orofaciodigital syndrome 11
- Oral facial digital syndrome type 12 - See Orofaciodigital syndrome 12
- Oral facial digital syndrome type 13 - See Orofaciodigital syndrome 13
- Oral facial digital syndrome type 2 - See Orofaciodigital syndrome 2
- Oral facial digital syndrome type 3 - See Orofaciodigital syndrome 3
- Oral facial digital syndrome type 4 - See Orofaciodigital syndrome 4
- Oral facial digital syndrome type 5 - See Orofaciodigital syndrome 5
- Oral facial digital syndrome type 8 - See Orofaciodigital syndrome 8
- Oral facial digital syndrome type 9 - See Orofaciodigital syndrome 9
- Oral facial digital syndromes - See Orofaciodigital syndromes
- Oral facial dystonia - See Meige syndrome
- Oral gangrene - See Noma
- Oral leukoplakia
- Oral lichen planus - not a rare disease
- Oral lichenoid lesions - See Oral lichen planus - not a rare disease
- Oral pharyngeal disorders
- Oral squamous cell carcinoma
- Oral submucous fibrosis
- Oral-facial-digital syndrome - See Orofaciodigital syndromes
- Oral-facial-digital syndrome 1 - See Orofaciodigital syndrome 1
- Oral-facial-digital syndrome 10 - See Orofaciodigital syndrome 10
- Oral-facial-digital syndrome 12 - See Orofaciodigital syndrome 12
- Oral-facial-digital syndrome 13 - See Orofaciodigital syndrome 13
- Oral-facial-digital syndrome 5 - See Orofaciodigital syndrome 5
- Oral-facial-digital syndrome type 1 - See Orofaciodigital syndrome 1
- Oral-facial-digital syndrome type 11 - See Orofaciodigital syndrome 11
- Oral-facial-digital syndrome type 12 - See Orofaciodigital syndrome 12
- Oral-facial-digital syndrome type 13 - See Orofaciodigital syndrome 13
- Oral-facial-digital syndrome type 14 - See Orofaciodigital syndrome 14
- Oral-facial-digital syndrome type 2 - See Orofaciodigital syndrome 2
- Oral-facial-digital syndrome type 3 - See Orofaciodigital syndrome 3
- Oral-facial-digital syndrome type 4 - See Orofaciodigital syndrome 4
- Oral-facial-digital syndrome type 6 - See Orofaciodigital syndrome 6
- Oral-facial-digital syndrome type 8 - See Orofaciodigital syndrome 8
- Oral-facial-digital syndrome type 9 - See Orofaciodigital syndrome 9
- Oral-facial-digital syndrome with fibular aplasia - See Orofaciodigital syndrome 10
- Oral-facial-digital syndrome with hypoplastic epiglottis - See Orofaciodigital syndrome 8
- Oral-facial-digital syndrome with retinal abnormalities - See Orofaciodigital syndrome 9
- Oral-facial-digital syndrome with skeletal anomalies - See Orofaciodigital syndrome 11
- Oral-facial-digital syndrome XIII - See Orofaciodigital syndrome 13
- Oral-facial-digital syndromes - See Orofaciodigital syndromes
- Orbital cyst with cerebral and focal dermal malformations - See Oculocerebrocutaneous syndrome
- Orbital lymphangioma
- Orbital lymphoma
- Orbital melanoma
- Orbital varix
- Orbital venous varix - See Orbital varix
- ORC syndrome - See Oculorenocerebellar syndrome
- Orchidoblastoma - See Testicular yolk sac tumor
- Oregon type tyrosinemia - See Tyrosinemia type 2
- Organic acidemia
- Organic mood syndrome
- Organizing pneumonia - See Bronchiolitis obliterans organizing pneumonia
- Organoid nevus phakomatosis - See Linear nevus sebaceous syndrome
- Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies - SeePhacomatosis pigmentokeratotica
- Ormond disease - See Retroperitoneal fibrosis
- Ormond's disease - See Retroperitoneal fibrosis
- Ornithine aminotransferase deficiency - See Gyrate atrophy of choroid and retina
- Ornithine carbamoyltransferase deficiency - See Ornithine transcarbamylase deficiency
- Ornithine ketoacid aminotransferase deficiency - See Gyrate atrophy of choroid and retina
- Ornithine transcarbamylase deficiency
- Ornithine translocase deficiency - See Ornithine translocase deficiency syndrome
- Ornithine translocase deficiency syndrome
- Ornithinemia
- Ornithosis - See Psittacosis
- Oroacral syndrome - See Oro-mandibular-limb hypogenesis syndrome
- Orocraniodigital syndrome - See Juberg-Hayward syndrome
- Orofacial cleft 11 - See Microphthalmia syndromic 6
- Oro-facial gangrene - See Noma
- Orofacial Granulomatosis
- Oro-facial noma - See Noma
- Orofaciodigital syndrome - See Orofaciodigital syndromes
- 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 - See Orofaciodigital syndrome 1
- Orofaciodigital syndrome II - See Orofaciodigital syndrome 2
- Orofaciodigital syndrome III - See Orofaciodigital syndrome 3
- Orofaciodigital syndrome IV - See Orofaciodigital syndrome 4
- Orofaciodigital syndrome IX - See Orofaciodigital syndrome 9
- Orofaciodigital syndrome type 12 - See Orofaciodigital syndrome 12
- Orofaciodigital syndrome type 13 - See Orofaciodigital syndrome 13
- Orofaciodigital syndrome type 14 - See Orofaciodigital syndrome 14
- Orofaciodigital syndrome type 6 - See Orofaciodigital syndrome 6
- Orofaciodigital syndrome type 8 - See Orofaciodigital syndrome 8
- Orofaciodigital syndrome type Figuera - See Orofaciodigital syndrome 10
- Orofaciodigital syndrome V - See Orofaciodigital syndrome 5
- Orofaciodigital syndrome VIII - See Orofaciodigital syndrome 8
- Orofaciodigital syndrome with fibular aplasia - See Orofaciodigital syndrome 10
- Orofaciodigital syndrome with retinal abnormalities - See Orofaciodigital syndrome 9
- Orofaciodigital syndrome with tibial dysplasia - See Orofaciodigital syndrome 4
- Orofaciodigital syndrome X - See Orofaciodigital syndrome 10
- Orofaciodigital syndrome XI - See Orofaciodigital syndrome 11
- Orofaciodigital syndrome XII - See Orofaciodigital syndrome 12
- Orofaciodigital syndrome XIII - See Orofaciodigital syndrome 13
- Orofaciodigital syndromes
- Oro-mandibular-limb hypogenesis syndrome
- Oropharyngeal cancer, adult
- Oropharyngeal cancer, childhood
- Oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein - See Lemierre syndrome
- Orotate phosphoribosyltransferase and omp decarboxylase deficiency - See Orotic aciduria type 1
- Orotic aciduria II (formerly) - See Orotic aciduria type 1
- Orotic aciduria type 1
- Oroticaciduria 1 - See Orotic aciduria type 1
- Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency - See Orotic aciduria type 1
- Orstavik Lindemann Solberg syndrome
- Orthostatic hypotension (a symptom) - See Pure autonomic failure
- Orthostatic intolerance due to NET deficiency
- Orthostatic tremor, primary - See Primary orthostatic tremor
- ORW disease - See Hereditary hemorrhagic telangiectasia
- ORW2 - See Hereditary hemorrhagic telangiectasia type 2
- ORW3 - See Hereditary hemorrhagic telangiectasia type 3
- osASD - See Ostium secundum atrial septal defect
- OSCS - See Osteopathia striata cranial sclerosis
- Osebold-Remondini syndrome - See Brachydactyly type A6
- Oslam syndrome
- Osler Weber Rendu syndrome - See Hereditary hemorrhagic telangiectasia
- Osler Weber Rendu syndrome type 2 - See Hereditary hemorrhagic telangiectasia type 2
- Osler Weber Rendu syndrome type 3 - See Hereditary hemorrhagic telangiectasia type 3
- Osler-Rendu-Weber disease - See Hereditary hemorrhagic telangiectasia
- OSMED - See OSMED Syndrome
- OSMED Syndrome
- OSMF - See Oral submucous fibrosis
- 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 - See Primrose syndrome
- Ossifying fibroma - See Osteofibrous dysplasia
- Osteitis deformans - See Paget disease of bone - not a rare disease
- Osteoarthropathy of fingers familial
- Osteoarthropathy, premature degenerative, of hip - See Beukes familial hip dysplasia
- Osteochondritis deformans - See Legg-Calve-Perthes disease
- Osteochondritis dissecans
- Osteochondritis dissecans, short stature, and early-onset osteoarthritis - See Familial osteochondritis dissecans
- Osteochondritis of tarsal/metatarsal bone - See Kohler disease
- Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension - See Faye-Petersen-Ward-Carey syndrome
- Osteochondrodysplasias - See Skeletal dysplasias - not a rare disease
- Osteochondroma
- Osteochondromuscular dystrophy - See Schwartz Jampel syndrome
- Osteochondrosis
- Osteochondrosis deformans tibiae - See Blount disease
- Osteochondrosis deformans tibiae, familial infantile type - See Blount disease
- Osteochondrosis of the metatarsal head, usually the second - See Freiberg's disease
- Osteochondrosis of the tarsal bone - See Kohler disease
- Osteoclastoma - See Giant cell tumor of bone
- Osteocraniosplenic syndrome - See Gracile bone dysplasia
- Osteocraniostenosis - See Gracile bone dysplasia
- Osteodysgenesis, multisynostotic with fractures - See Antley Bixler syndrome
- Osteodysplasia familial Anderson type
- Osteodysplastic primordial dwarfism type 2 - See Microcephalic osteodysplastic primordial dwarfism type 2
- Osteodysplastic primordial dwarfism type I - See Microcephalic osteodysplastic primordial dwarfism type 1
- Osteodysplasty of Melnick and Needles - See Melnick-Needles syndrome
- Osteodysplasty precocious of Danks Mayne and Kozlowski
- Osteofibrous dysplasia
- Osteogenesis imperfecta
- Osteogenesis imperfecta congenita - See Osteogenesis imperfecta type II
- Osteogenesis imperfecta congenita perinatal lethal form - See Osteogenesis imperfecta type II
- Osteogenesis imperfecta Levin type
- Osteogenesis imperfecta ocular form - See Osteoporosis-pseudoglioma syndrome
- Osteogenesis imperfecta retinopathy seizures intellectual deficit - See Al Gazali Sabrinathan Nair syndrome
- Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen - See Osteogenesis imperfecta type IX
- Osteogenesis imperfecta tarda - See Osteogenesis imperfecta type I
- Osteogenesis imperfecta type - See Osteogenesis imperfecta type VI
- Osteogenesis imperfecta type 10 - See Osteogenesis imperfecta
- Osteogenesis imperfecta type 11 - Another name for Osteogenesis imperfecta type XI
- Osteogenesis imperfecta type 2 - See Osteogenesis imperfecta type II
- Osteogenesis imperfecta type 8 - See Osteogenesis imperfecta type VIII
- Osteogenesis imperfecta type 9 - See Osteogenesis imperfecta type IX
- 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 - See Osteogenesis imperfecta
- Osteogenesis imperfecta type XI
- Osteogenesis imperfecta with blue sclerae - See Osteogenesis imperfecta type I
- Osteogenesis imperfecta with congenital joint contractures - See Bruck syndrome 1
- Osteogenesis imperfecta with normal sclerae - See Osteogenesis imperfecta type IV
- Osteogenesis imperfecta with unusual skeletal lesions - See Osteogenesis imperfecta Levin type
- Osteogenesis imperfecta, progressively deforming with normal sclerae - See Osteogenesis imperfecta type III
- Osteogenic sarcoma - See Osteosarcoma
- Osteoglophonic dwarfism - See Osteoglophonic dysplasia
- Osteoglophonic dysplasia
- Osteolysis massive - See Gorham's disease
- Osteolysis syndrome recessive
- Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance - See Osteolysis syndrome recessive
- Osteolysis, familial expansile - See Polyostotic osteolytic dysplasia, hereditary expansile
- Osteolysis, hereditary multicentric - See Torg Winchester syndrome
- Osteomalacia
- Osteomesopyknosis
- Osteomyelitis
- Osteo-Onychodysplasia - See Nail-patella syndrome
- Osteopathia condensans disseminata - See Buschke Ollendorff syndrome
- Osteopathia condensans disseminata - See Osteopoikilosis
- Osteopathia striata - cranial sclerosis - See Osteopathia striata cranial sclerosis
- Osteopathia striata associated with familial dermopathy and white forelock - See Osteopathia striata with pigmentary dermopathy including white forelock
- Osteopathia striata cranial sclerosis
- Osteopathia striata with pigmentary dermopathy including white forelock
- Osteopathia striata-cranial sclerosis syndrome - See Osteopathia striata cranial sclerosis
- Osteopenia and sparse hair
- Osteopenia mental retardation sparse hair - See Osteopenia and sparse hair
- Osteopetroses - See Osteopetrosis
- Osteopetrosis
- Osteopetrosis and infantile neuroaxonal dystrophy
- 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 - See Osteopetrosis autosomal recessive 6
- Osteopetrosis infantile malignant 1 - See Osteopetrosis autosomal recessive 1
- Osteopetrosis infantile malignant 2 - See Osteopetrosis autosomal recessive 4
- Osteopetrosis infantile malignant 3 - See Osteopetrosis autosomal recessive 5
- Osteopetrosis osteoclast-poor - See Osteopetrosis autosomal recessive 2
- Osteopetrosis osteoclast-poor with hypogammaglobulinemia - See Osteopetrosis autosomal recessive 7
- Osteopetrosis with renal tubular acidosis - See Osteopetrosis autosomal recessive 3
- Osteopoikilosis
- Osteopoikilosis and dacryocystitis
- Osteopoikilosis-short stature-intellectual disability syndrome - See 12q14 microdeletion syndrome
- Osteoporosis oculocutaneous hypopigmentation syndrome
- Osteoporosis pseudoglioma syndrome - See Osteoporosis-pseudoglioma syndrome
- Osteoporosis, juvenile - See Juvenile osteoporosis
- Osteoporosis-pseudoglioma syndrome
- Osteopsathyrosis - See Osteogenesis imperfecta
- Osteosarcoma
- Osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia - See Oslam syndrome
- Osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow - See Oslam syndrome
- Osteosclerosis abnormalities of nervous system and meninges
- Osteosclerosis fragilis - See Osteopetrosis
- Osteosclerosis of the skull and enlarged mandible - See Van Buchem disease type 2
- Osteosclerosis with ichthyosis and POF - See Osteosclerosis with ichthyosis and premature ovarian failure
- Osteosclerosis with ichthyosis and premature ovarian failure
- Osteosclerosis, autosomal dominant - See Worth type autosomal dominant osteosclerosis
- Osteosclerosis, autosomal dominant, Worth type - See Worth type autosomal dominant osteosclerosis
- Ostertag type amyloidosis - See Amyloidosis familial visceral
- Ostium primum ASD - See Atrial septal defect ostium primum
- Ostium secundum ASD - See Ostium secundum atrial septal defect
- Ostium secundum atrial septal defect
- OT - See Primary orthostatic tremor
- OTC deficiency - See Ornithine transcarbamylase deficiency
- OTCD - See Ornithine transcarbamylase deficiency
- Otodental dysplasia
- Otofaciocervical syndrome
- Otoonychoperoneal syndrome
- Oto-onycho-peroneal syndrome - See Otoonychoperoneal syndrome
- Oto-Palatal-digital syndrome
- Otopalatodigital syndrome type 1 - See Oto-palato-digital syndrome type 1
- Oto-palato-digital syndrome type 1
- Otopalatodigital syndrome type 2 - See Oto-palato-digital syndrome type 2
- Oto-palato-digital syndrome type 2
- Otosclerosis, familial
- Otospondylomegaepiphyseal dysplasia - See OSMED Syndrome
- Oto-Spondylo-Mega-Epiphyseal Dysplasia - See OSMED Syndrome
- Otto syndrome - See Arthrogryposis multiplex congenita
- Otulipenia
- OTX2-related eye disorders - See Microphthalmia syndromic 5
- Oudtshoorn skin - See Keratolytic winter erythema
- Ouvrier Billson syndrome
- Ovarian Brenner tumor - See Brenner tumor of ovary
- Ovarian cancer
- Ovarian cancer, epithelial - See Ovarian epithelial cancer
- Ovarian carcinoma - See Ovarian cancer
- Ovarian carcinoma, childhood - See Childhood ovarian cancer
- Ovarian carcinosarcoma
- Ovarian dysgenesis with sensorineural deafness - See Perrault syndrome
- Ovarian epithelial cancer
- Ovarian epithelial carcinoma - See Ovarian epithelial cancer
- Ovarian germ cell tumor
- Ovarian gynandroblastoma - See Gynandroblastoma
- Ovarian insufficiency due to FSH resistance
- Ovarian insufficiency, familial
- Ovarian low malignant potential tumor
- Ovarian malignant mixed epithelial mesenchymal tumor - See Ovarian carcinosarcoma
- Ovarian malignant mixed Müllerian tumor - See Ovarian carcinosarcoma
- Ovarian remnant syndrome
- Ovarian sex cord tumor with annular tubules
- Ovarian sex cord-stromal tumor - See Ovarian sex cord tumor with annular tubules
- Ovarian small cell carcinoma
- Overgrowth - craniosynostosis - arthrogryposis - See Richieri-Costa Guion-Almeida Cohen syndrome
- Overgrowth radial ray defect arthrogryposis
- Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly - See Weaver syndrome
- Overhydrated hereditary stomatocytosis - See Stomatocytosis I
- Overlap connective tissue disease - See MASS phenotype
- Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities - See Pelger-Huet anomaly
- Ovoid pupils - See Egg shaped pupils
- Oxalosis 1 - See Primary hyperoxaluria type 1
- Oxalosis 2 - See Primary hyperoxaluria type 2
- Oxoglutaricaciduria - See Alpha-ketoglutarate dehydrogenase deficiency
- Oxoprolinase deficiency - See Glutathione synthetase deficiency
- Oxoprolinuria due to 5-oxoprolinase deficiency - See 5-oxoprolinase deficiency
domingo, 27 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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