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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2200&ordering=-synonyms",
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"results": [
{
"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": "Joubert syndrome 22.",
"acronym": "JBTS22.",
"accession": "DI-04020",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Choroidal dystrophy, central areolar 2.",
"acronym": "CACD2.",
"accession": "DI-01330",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 8.",
"acronym": "ALS8.",
"accession": "DI-00112",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Bardet-Biedl syndrome 3.",
"acronym": "BBS3.",
"accession": "DI-00161",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 92.",
"acronym": "MRX92.",
"accession": "DI-00738",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Bardet-Biedl syndrome 4.",
"acronym": "BBS4.",
"accession": "DI-00162",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Focal segmental glomerulosclerosis 3.",
"acronym": "FSGS3.",
"accession": "DI-01622",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Epilepsy, familial temporal lobe, 5.",
"acronym": "ETL5.",
"accession": "DI-03336",
"synonyms": null,
"cross_references": "MeSH; D004833.",
"definition": "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 23.",
"acronym": "MRD23.",
"accession": "DI-04067",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; "
},
{
"identifier": "Bardet-Biedl syndrome 5.",
"acronym": "BBS5.",
"accession": "DI-00163",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 5.",
"acronym": "ENFL5.",
"accession": "DI-03663",
"synonyms": null,
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 9.",
"acronym": "ALS9.",
"accession": "DI-00113",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy.",
"acronym": "HOMG7.",
"accession": "DI-06559",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Bardet-Biedl syndrome 6.",
"acronym": "BBS6.",
"accession": "DI-00164",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 33.",
"acronym": "MRXS33.",
"accession": "DI-04617",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Bain type.",
"acronym": "MRXSB.",
"accession": "DI-04850",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 6, with pyloric atresia.",
"acronym": "JEB6.",
"accession": "DI-06343",
"synonyms": null,
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Bardet-Biedl syndrome 7.",
"acronym": "BBS7.",
"accession": "DI-00165",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and brain abnormalities.",
"acronym": "NEDHYBA.",
"accession": "DI-06219",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}