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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3820&ordering=synonyms",
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"results": [
{
"identifier": "Leber congenital amaurosis 11.",
"acronym": "LCA11.",
"accession": "DI-03048",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Leber congenital amaurosis 10.",
"acronym": "LCA10.",
"accession": "DI-00637",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 110.",
"acronym": "DEE110.",
"accession": "DI-06558",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Lui-Jee-Baron syndrome.",
"acronym": "LJBS.",
"accession": "DI-06805",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An X-linked disorder characterized by prenatal onset, generalized overgrowth, extreme tall stature, enlarged liver and spleen, macrocephaly, dysmorphic features, and normal development. Hemizygous males are more severely affected than heterozygous females. ",
"keywords": null
},
{
"identifier": "Cataracts, spastic paraparesis, and speech delay.",
"acronym": "CSPSD.",
"accession": "DI-06115",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Lathosterolosis.",
"acronym": "LATHOS.",
"accession": "DI-01881",
"synonyms": null,
"cross_references": "MeSH; D043202.",
"definition": "An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. ",
"keywords": null
},
{
"identifier": "Late-onset retinal degeneration.",
"acronym": "LORD.",
"accession": "DI-01880",
"synonyms": null,
"cross_references": "MedGen; C1854065.",
"definition": "Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. ",
"keywords": null
},
{
"identifier": "Luscan-Lumish syndrome.",
"acronym": "LLS.",
"accession": "DI-04661",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 109.",
"acronym": "DEE109.",
"accession": "DI-06557",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE109 is an autosomal dominant form characterized by the onset of various types of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Larsen syndrome.",
"acronym": "LRS.",
"accession": "DI-01214",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 108.",
"acronym": "DEE108.",
"accession": "DI-06547",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE108 is an autosomal dominant form characterized by the onset of multiple types of seizures in the first 2 years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Langer mesomelic dysplasia.",
"acronym": "LMD.",
"accession": "DI-01876",
"synonyms": null,
"cross_references": "MedGen; C0432230.",
"definition": "Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 11.",
"acronym": "LMPHM11.",
"accession": "DI-06136",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations. ",
"keywords": null
},
{
"identifier": "Lamb-Shaffer syndrome.",
"acronym": "LAMSHF.",
"accession": "DI-04646",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 107.",
"acronym": "DEE107.",
"accession": "DI-06502",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2.",
"acronym": "CHINE2.",
"accession": "DI-06696",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood. ",
"keywords": "KW-0209:Deafness.; KW-0898:Cataract.; "
},
{
"identifier": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1.",
"acronym": "CHINE1.",
"accession": "DI-06695",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "An X-linked dominant disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. Males are more severely affected than females, and death occurs in early childhood. Affected females develop early-onset hearing impairment, early-onset cataracts, but only rarely have nephrotic syndrome. They do not have enterocolitis. ",
"keywords": "KW-0209:Deafness.; KW-0898:Cataract.; "
},
{
"identifier": "Lactate dehydrogenase B deficiency.",
"acronym": "LDHBD.",
"accession": "DI-04441",
"synonyms": null,
"cross_references": "MedGen; C3279904.",
"definition": "A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. ",
"keywords": null
},
{
"identifier": "Lacrimo-auriculo-dento-digital syndrome 3.",
"acronym": "LADD3.",
"accession": "DI-06573",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0953:Lacrimo-auriculo-dento-digital syndrome.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 106.",
"acronym": "DEE106.",
"accession": "DI-06501",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non- specific brain abnormalities may be observed on MRI. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}