{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1780&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1740&ordering=-identifier","results":[{"identifier":"Odonto-onycho-dermal dysplasia.","acronym":"OODD.","accession":"DI-00882","synonyms":"ECTD16.; Ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type.; Tricho-odonto-onycho-dermal dysplasia.; ","cross_references":"MeSH; D004476.","definition":"A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Odontochondrodysplasia 2 with hearing loss and diabetes.","acronym":"ODCD2.","accession":"DI-06079","synonyms":null,"cross_references":"MeSH; D034381.","definition":"An autosomal recessive disorder characterized by dentinogenesis imperfecta, delayed tooth eruption, growth retardation with proportionate short stature, skeletal abnormalities, and dysmorphic facies in association with insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. ","keywords":"KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Odontochondrodysplasia 1.","acronym":"ODCD1.","accession":"DI-05493","synonyms":"Goldblatt syndrome.; ODCD.; Spondylometaphyseal dysplasia with dentinogenesis imperfecta.; ","cross_references":"MeSH; D014071.","definition":"An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone- shaped epiphyses. ","keywords":null},{"identifier":"O'Donnell-Luria-Rodan syndrome.","acronym":"ODLURO.","accession":"DI-05620","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Oculoskeletodental syndrome.","acronym":"OCSKD.","accession":"DI-05573","synonyms":"Cataracts, early-onset, with skeletal and dental anomalies.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis. ","keywords":"KW-0242:Dwarfism.; KW-0898:Cataract.; "},{"identifier":"Oculopharyngodistal myopathy 4.","acronym":"OPDM4.","accession":"DI-06365","synonyms":null,"cross_references":"MeSH; D039141.","definition":"A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades. ","keywords":null},{"identifier":"Oculopharyngodistal myopathy 3.","acronym":"OPDM3.","accession":"DI-06192","synonyms":null,"cross_references":"MeSH; D039141.","definition":"A form of oculopharyngodistal myopathy, a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. In addition to muscular features, OPDM3 patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. OPDM3 is a slowly progressive form with an autosomal dominant transmission pattern, and variable age at onset ranging from childhood to late adulthood. ","keywords":null},{"identifier":"Oculopharyngodistal myopathy 2.","acronym":"OPDM2.","accession":"DI-05872","synonyms":null,"cross_references":"MeSH; D039141.","definition":"A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant. ","keywords":null},{"identifier":"Oculopharyngodistal myopathy 1.","acronym":"OPDM1.","accession":"DI-05685","synonyms":"Faciooculolaryngopharyngeal myopathy with distal and respiratory involvement.; FOLP-DR.; Oculopharyngodistal myopathy.; OPDM.; ","cross_references":"MeSH; D039141.","definition":"A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant. ","keywords":null},{"identifier":"Oculopharyngeal muscular dystrophy 2.","acronym":"OPMD2.","accession":"DI-06737","synonyms":null,"cross_references":"MeSH; D039141.","definition":"An autosomal dominant, early-onset myopathy characterized by progressive muscle weakness, ptosis, ophthalmoplegia, dysphagia, and variable degrees of respiratory insufficiency. ","keywords":null},{"identifier":"Oculopharyngeal muscular dystrophy 1.","acronym":"OPMD1.","accession":"DI-00881","synonyms":"Mscular dystrophy, oculopharyngeal.; ","cross_references":"MeSH; D039141.","definition":"An autosomal dominant, late-onset, slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. ","keywords":null},{"identifier":"Oculomotor-abducens synkinesis.","acronym":"OCABSN.","accession":"DI-06034","synonyms":null,"cross_references":"MeSH; D046608.","definition":"An autosomal recessive disorder characterized by ptosis and elevation of the eyelid on ipsilateral abduction. OCABSN features are consistent with abnormal innervation of the levator palpebrae superioris muscle, which raises the eyelid, and the lateral rectus muscle, which controls lateral eye movement. ","keywords":null},{"identifier":"Oculogastrointestinal neurodevelopmental syndrome.","acronym":"OGIN.","accession":"DI-06103","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by growth deficits, microcephaly, global developmental delay, hearing loss, and microphthalmia and/or coloboma. Other congenital anomalies include imperforate anus, horseshoe kidney, and structural cardiac defects. Some patients have been reported with normal motor and cognitive development. ","keywords":"KW-0209:Deafness.; KW-1013:Microphthalmia.; "},{"identifier":"Oculoectodermal syndrome.","acronym":"OES.","accession":"DI-05645","synonyms":"Aplasia cutis congenita with epibulbar dermoids.; Toriello-Lacassie-Droste syndrome.; ","cross_references":"MeSH; D004476.","definition":"A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Oculodentodigital dysplasia, autosomal recessive.","acronym":"ODDD-AR.","accession":"DI-01251","synonyms":"Autosomal recessive oculodentoosseous dysplasia.; Autosomal recessive ODDD.; Autosomal recessive ODD syndrome.; Autosomal recessive ODOD.; ","cross_references":"MeSH; D014071.","definition":"A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. ","keywords":null},{"identifier":"Oculodentodigital dysplasia.","acronym":"ODDD.","accession":"DI-01222","synonyms":"Oculo-dento-digital dysplasia.; Oculodentodigital syndrome.; Oculo-dento-digital syndrome.; Oculodentoosseous dysplasia.; ODDS.; ODD syndrome.; ODOD.; ","cross_references":"MeSH; D014071.","definition":"A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. ","keywords":null},{"identifier":"Oculoauricular syndrome.","acronym":"OCACS.","accession":"DI-02084","synonyms":"Schorderet-Munier-Franceschetti syndrome.; ","cross_references":"MeSH; D005124.","definition":"A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. ","keywords":"KW-0898:Cataract.; KW-1013:Microphthalmia.; "},{"identifier":"Occult macular dystrophy.","acronym":"OCMD.","accession":"DI-03012","synonyms":"OMD.; ","cross_references":"MeSH; D008268.","definition":"An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina. ","keywords":null},{"identifier":"Occipital horn syndrome.","acronym":"OHS.","accession":"DI-00880","synonyms":"Cutis laxa X-linked.; EDS9.; Ehlers-Danlos syndrome occipital horn type.; ","cross_references":"MeSH; D003483.","definition":"An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. ","keywords":null},{"identifier":"Obesity, hyperphagia, and developmental delay.","acronym":"OBHD.","accession":"DI-03120","synonyms":null,"cross_references":"MeSH; D009765.","definition":"A disorder characterized by early-onset obesity, hyperphagia, and severe developmental delay in motor function, speech, and language. ","keywords":"KW-0550:Obesity.; "}]}