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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5020",
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"results": [
{
"identifier": "Opitz-Kaveggia syndrome.",
"acronym": "OKS.",
"accession": "DI-02095",
"synonyms": "FGS.; FGS1.; FG syndrome.; FG syndrome type 1.; ",
"cross_references": "MedGen; C0220769.",
"definition": "X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ",
"keywords": null
},
{
"identifier": "Opsismodysplasia.",
"acronym": "OPSMD.",
"accession": "DI-03691",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges. ",
"keywords": null
},
{
"identifier": "Optic atrophy 1.",
"acronym": "OPA1.",
"accession": "DI-02097",
"synonyms": "Kjer-type optic atrophy.; OAK.; Optic atrophy juvenile.; Optic atrophy Kjer type.; ",
"cross_references": "MeSH; D029241.",
"definition": "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. ",
"keywords": null
},
{
"identifier": "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures.",
"acronym": "OPA10.",
"accession": "DI-04624",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild intellectual disability and, rarely, generalized seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Optic atrophy 11.",
"acronym": "OPA11.",
"accession": "DI-04928",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging. ",
"keywords": null
},
{
"identifier": "Optic atrophy 12.",
"acronym": "OPA12.",
"accession": "DI-05893",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA12 patients manifest slowly progressive visual impairment with onset usually in the first decade. Some patients may exhibit additional features including impaired intellectual development, dystonia, movement disorders, or ataxia. ",
"keywords": null
},
{
"identifier": "Optic atrophy 13 with retinal and foveal abnormalities.",
"acronym": "OPA13.",
"accession": "DI-05921",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal dominant disease characterized by visual impairment in association with bilateral optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. Many OPA13 patients also exhibit retinal pigmentary defects, attenuated retinal vasculature, macular dystrophy, and foveopathy. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. ",
"keywords": null
},
{
"identifier": "Optic atrophy 14.",
"acronym": "OPA14.",
"accession": "DI-06783",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA14 is an autosomal dominant form characterized by adult-onset progressive reduction in visual acuity, and pale and excavated optic disk. Optical coherence tomography discloses a severe loss of the retinal nerve fiber layer. ",
"keywords": null
},
{
"identifier": "Optic atrophy 15.",
"acronym": "OPA15.",
"accession": "DI-06790",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA15 is an autosomal recessive form. ",
"keywords": null
},
{
"identifier": "Optic atrophy 16.",
"acronym": "OPA16.",
"accession": "DI-06791",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA16 is an autosomal recessive form. Patients also show mild sensorineural hearing impairment. ",
"keywords": null
},
{
"identifier": "Optic atrophy 3.",
"acronym": "OPA3.",
"accession": "DI-02098",
"synonyms": "ADOAC.; Autosomal dominant optic atrophy and cataract.; Optic atrophy 3 autosomal dominant.; ",
"cross_references": "MeSH; D015418.",
"definition": "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. ",
"keywords": null
},
{
"identifier": "Optic atrophy 5.",
"acronym": "OPA5.",
"accession": "DI-05126",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia. ",
"keywords": null
},
{
"identifier": "Optic atrophy 7 with or without auditory neuropathy.",
"acronym": "OPA7.",
"accession": "DI-02531",
"synonyms": "Optic atrophy 7.; ",
"cross_references": "MeSH; D015418.",
"definition": "A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. ",
"keywords": null
},
{
"identifier": "Optic atrophy 9.",
"acronym": "OPA9.",
"accession": "DI-04381",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. ",
"keywords": null
},
{
"identifier": "Optic disk anomalies with retinal and/or macular dystrophy.",
"acronym": "ODRMD.",
"accession": "DI-00757",
"synonyms": null,
"cross_references": "MeSH; D008850.",
"definition": "An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Ornithine carbamoyltransferase deficiency.",
"acronym": "OTCD.",
"accession": "DI-00883",
"synonyms": "Hyperammonemia due to ornithine carbamoyltransferase deficiency.; Ornithine transcarbamylase deficiency.; OTC deficiency.; ",
"cross_references": "MeSH; D022124.",
"definition": "An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. ",
"keywords": null
},
{
"identifier": "Orofacial cleft 8.",
"acronym": "OFC8.",
"accession": "DI-00829",
"synonyms": "Cleft lip with or without cleft palate, nonsyndromic, 8.; Non-syndromic cleft lip/palate 8.; Non-syndromic cleft lip with or without cleft palate 8.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Orofaciodigital syndrome 1.",
"acronym": "OFD1.",
"accession": "DI-02099",
"synonyms": "OFDS I.; Oral-facial-digital syndrome, type I.; Oral-facial-digital syndrome 1.; Orofaciodigital syndrome I.; Papillon-Leage and Psaume syndrome.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy- Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 14.",
"acronym": "OFD14.",
"accession": "DI-04201",
"synonyms": null,
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 15.",
"acronym": "OFD15.",
"accession": "DI-04826",
"synonyms": "OFDS XV.; Oro-facio-digital syndrome, XV.; Orofaciodigital syndrome XV.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
}
]
}