This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

  • O Doherty syndrome
  • O Donnell Pappas syndrome
  • Obesity
  • Obesophobia
  • Obsessive-compulsive disorder
  • Obstructive asymmetric septal hypertrophy
  • Occipital horn syndrome
  • Occlusive Infantile ateriopathy
  • Occult spinal dysraphism
  • Occupational Asthma - Chemicals
  • Occupational Asthma - Metals
  • Occupational Asthma - Plants
  • Occupational Asthma - Wood dust
  • Occupational Asthma-Drugs
  • OCD
  • Ochoa syndrome
  • Ochronosis, hereditary
  • Ochronosis
  • Ocular Albinism
  • Ocular coloboma-imperforate anus
  • Ocular convergence spasm
  • Ocular Histoplasmosis
  • Ocular melanoma
  • Ocular motility disorders
  • Ocular toxoplasmosis
  • Oculo cerebral dysplasia
  • Oculo cerebro acral syndrome
  • Oculo cerebro osseous syndrome
  • Oculo dento digital dysplasia
  • Oculo digital syndrome
  • Oculo facio cardio dental syndrome
  • Oculo skeletal renal syndrome
  • Oculo tricho anal syndrome
  • Oculo tricho dysplasia
  • Oculoauriculofrontonasal syndrome
  • Oculoauriculovertebral dysplasia
  • Oculocerebral hypopigmentation syndrome Cross type
  • Oculocerebral hypopigmentation syndrome type Preus
  • Oculocerebral syndrome with hypopigmentation
  • Oculocerebrocutaneous syndrome
  • Oculocerebrorenal syndrome
  • Oculocutaneous albinism immunodeficiency
  • Oculocutaneous albinism type 1
  • Oculocutaneous albinism type 2
  • Oculocutaneous albinism type 3
  • Oculocutaneous albinism, tyrosinase negative
  • Oculocutaneous albinism, tyrosinase positive
  • Oculocutaneous tyrosinemia
  • Oculodental syndrome Rutherfurd syndrome
  • Oculodentodigital dysplasia dominant
  • Oculodentodigital syndrome
  • Oculo-dento-digital syndrome
  • Oculodentoosseous dysplasia dominant
  • Oculodentoosseous dysplasia recessive
  • Oculodigitoesophagoduodenal syndrome
  • Oculo-gastrointestinal muscular dystrophy
  • Oculomaxillofacial dysostosis
  • Oculomaxillofacial dysplasia with oblique facial clefts
  • Oculomelic amyoplasia
  • Oculopalatoskeletal syndrome
  • Oculopharnygeal muscular dystrophy
  • Oculorenocerebellar syndrome
  • Odonto onycho dysplasia with alopecia
  • Odontoma
  • Odontomicronychial dysplasia
  • Odontoonychodermal dysplasia
  • Odontophobia
  • Odontotrichomelic hypohidrotic dysplasia
  • Odynophobia
  • OFD syndrome type 8
  • OFD syndrome type Figuera
  • Ogilvie's syndrome
  • Ohaha syndrome
  • Ohdo Madokoro Sonoda syndrome
  • Oikophobia
  • Okamuto Satomura syndrome
  • Olfactophobia
  • Oligodactyly tetramelic postaxial
  • Oligomeganephronic renal hypoplasia
  • Oligomeganephrony
  • Oligophernia
  • Oliver McFarlane syndrome
  • Oliver syndrome
  • Olivopontocerebellar atrophy deafness
  • Olivopontocerebellar atrophy type 1
  • Olivopontocerebellar atrophy type 2
  • Olivopontocerebellar atrophy type 3
  • Olivopontocerebellar atrophy
  • Ollier disease
  • Olmsted syndrome
  • Ombrophobia
  • Omenn syndrome
  • Omodysplasia type 1
  • Omphalocele cleft palate syndrome lethal
  • Omphalocele exstrophy imperforate anus
  • Omphalomesenteric cyst
  • Omsk hemorrhagic fever
  • Onat syndrome
  • Onchocerciasis
  • Oncocytoma
  • Ondine's curse
  • Oneirophobia
  • Onychonychia hypoplastic distal phalanges
  • Onychotrichodysplasia and neutropenia
  • Ophthalmophobia
  • Opitz Mollica Sorge syndrome
  • Opitz Reynolds Fitzgerald syndrome
  • Opitz syndrome
  • Opportunistic infections
  • Oppositional defiant disorder
  • Opsismodysplasia
  • Ophthalmic icthyosis
  • Ophthalmo acromelic syndrome
  • Ophthalmomandibulomelic dysplasia
  • Ophthalmoplegia ataxia hypoacusis
  • Ophthalmoplegia mental retardation lingua scrotalis
  • Ophthalmoplegia myalgia tubular aggregates
  • Opthalmoplegia progressive external scoliosis
  • Optic atrophy opthalmoplegia ptosis deafness myopia
  • Optic atrophy polyneuropathy deafness
  • Optic atrophy, autosomal dominant
  • Optic atrophy, idiopathic, autosomal recessive
  • Optic atrophy
  • Optic nerve coloboma with renal disease
  • Optic nerve disorder
  • Optic nerve hypoplasia, familial bilateral
  • Optic neuritis
  • Optic pathway glioma
  • Opticoacoustic nerve atrophy dementia
  • Oral facial digital syndrome type 3
  • Oral facial digital syndrome type 4
  • Oral facial digital syndrome
  • Oral facial dyskinesia
  • Oral leukoplakia
  • Oral lichen planus
  • Oral lichenoid lesions
  • Oral squamous cell carcinoma
  • Oral submucous fibrosis
  • Oral-facial cleft
  • Oral-facial-digital syndrome, type IV
  • Oral-facial-digital syndrome
  • Oral-pharyngeal disorders
  • Organic brain syndrome
  • Organic mood syndrome
  • Organic personality syndrome
  • Ornithine aminotransferase deficiency
  • Ornithine carbamoyl phosphate deficiency
  • Ornithine transcarbamylase deficiency, hyperammonemia due to
  • Ornithinemia
  • Oro acral syndrome
  • Orofaciodigital syndrome Gabrielli type
  • Orofaciodigital syndrome Shashi type
  • Orofaciodigital syndrome Thurston type
  • Orofaciodigital syndrome type 2
  • Orofaciodigital syndrome type1
  • Orotic aciduria hereditary
  • Orotic aciduria purines-pyrimidines
  • Orotidylic decarboxylase deficiency
  • Orstavik Lindemann Solberg syndrome
  • Orthostatic intolerance
  • Osebold Remondini syndrome
  • Oslam syndrome
  • Osmed Syndrome
  • Ossicular Malformations, familial
  • Osteitis deformans
  • Osteoarthritis
  • Osteoarthropathy of fingers familial
  • Osteochondritis deformans juvenile
  • Osteochondritis dissecans
  • Osteochondritis
  • Osteochondrodysplasia thrombocytopenia hydrocephalus
  • Osteochondroma
  • Osteocraniostenosis
  • Osteodysplasia familial Anderson type
  • Osteodysplastic dwarfism Corsello type
  • Osteoectasia familial
  • Osteogenesis imperfecta congenita microcephaly and cataracts
  • Osteogenesis imperfecta congenital joint contractures
  • Osteogenesis imperfecta retinopathy
  • Osteogenic sarcoma
  • Osteoglophonic dwarfism
  • Osteolysis hereditary multicentric
  • Osteolysis syndrome recessive
  • Osteomalacia
  • osteomyelitis
  • Osteonecrosis
  • Osteopathia condensans disseminata with osteopoikilosis
  • Osteopathia striata cranial sclerosis
  • Osteopathia striata pigmentary dermopathy white forelock
  • Osteopetrosis autosomal dominant type 1
  • Osteopetrosis lethal
  • Osteopetrosis renal tubular acidosis
  • Osteopetrosis, (generic term)
  • Osteopetrosis, malignant
  • Osteopetrosis, mild autosomal recessive form
  • Osteopoikilosis
  • Osteoporosis macrocephaly mental retardation blindness
  • Osteoporosis oculocutaneous hypopigmentation syndrome
  • Osteoporosis pseudoglioma syndrome
  • osteoporosis
  • Osteosarcoma limb anomalies erythroid macrocytosis
  • Osteosclerose type Stanescu
  • Osteosclerosis abnormalities of nervous system and meninges
  • Osteosclerosis autosomal dominant Worth type
  • Osteosclerosis
  • Ostertag type amyloidosis
  • Ota Kawamura Ito syndrome
  • Oto palato digital syndrome type I and II
  • Otodental dysplasia
  • Otofaciocervical syndrome
  • Otoonychoperoneal syndrome
  • Oto-Palatal-digital syndrome
  • Otopalatodigital syndrome type 2
  • Otosclerosis, familial
  • otosclerosis
  • Otospondylomegaepiphyseal dysplasia
  • Ouvrier Billson syndrome
  • Ovarian cancer
  • Ovarian carcinosarcoma
  • Ovarian dwarfism as part of Turner Syndrome
  • Ovarian dwarfism
  • Ovarian insufficiency due to FSH resistance
  • ovarian remnant syndrome
  • Overfolded helix
  • Overgrowth radial ray defect arthrogryposis
  • Overgrowth syndrome type Fryer
  • Overhydrated hereditary stomatocytosis
  • Oxalosis