HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=40&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&ordering=synonyms",
"results": [
{
"identifier": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.",
"acronym": "MEGDEL.",
"accession": "DI-03495",
"synonyms": "3-methylglutaconic aciduria, type VI.; 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome.; MEGDHEL.; MGCA6.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "3-methylglutaconic aciduria 8.",
"acronym": "MGCA8.",
"accession": "DI-04904",
"synonyms": "3-methylglutaconic aciduria, type VII.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3- methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "3-methylglutaconic aciduria 7B.",
"acronym": "MGCA7B.",
"accession": "DI-04365",
"synonyms": "3-methylglutaconic aciduria, type VII.; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia.; MEGCANN.; MGCA7.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections. ",
"keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; "
},
{
"identifier": "3-methylglutaconic aciduria 7A.",
"acronym": "MGCA7A.",
"accession": "DI-06387",
"synonyms": "3-methylglutaconic aciduria, type VIIA, autosomal dominant.; 3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, impaired intellectual development, cataracts, seizures, and recurrent infections. ",
"keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "3M syndrome 1.",
"acronym": "3M1.",
"accession": "DI-00011",
"synonyms": "3M syndrome-1.; Dolichospondylic dysplasia.; Gloomy face syndrome.; Le Merrer syndrome.; Miller-McKusick-Malvaux syndrome.; Three M syndrome.; Three M syndrome 1.; Yakut short stature syndrome.; ",
"cross_references": "MeSH; D004392.",
"definition": "An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "3M syndrome 2.",
"acronym": "3M2.",
"accession": "DI-02472",
"synonyms": "3M syndrome-2.; Three M syndrome 2.; ",
"cross_references": "MeSH; D004392.",
"definition": "An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "3M syndrome 3.",
"acronym": "3M3.",
"accession": "DI-03220",
"synonyms": "3M syndrome-3.; Three M syndrome 3.; ",
"cross_references": "MeSH; D004392.",
"definition": "A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "46,XX sex reversal 1.",
"acronym": "SRXX1.",
"accession": "DI-02395",
"synonyms": "46,XX gonadal dysgenesis complete SRY-positive.; 46,XX sex reversal SRY-positive.; 46,XX testicular disorder of sex development.; 46,XX true hermaphroditism SRY-positive.; Ovotesticular disorder of sex development.; Ovotesticular DSD.; XX male SRY-positive.; ",
"cross_references": "MeSH; D050090.",
"definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). ",
"keywords": null
},
{
"identifier": "46,XX sex reversal 3.",
"acronym": "SRXX3.",
"accession": "DI-03008",
"synonyms": "46,XX male sex reversal SOX3-related.; ",
"cross_references": "MeSH; D058531.",
"definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). ",
"keywords": null
},
{
"identifier": "46,XX sex reversal 2.",
"acronym": "SRXX2.",
"accession": "DI-03053",
"synonyms": "46,XX sex reversal partial or complete SOX9-related.; ",
"cross_references": "MeSH; D058531.",
"definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). ",
"keywords": null
},
{
"identifier": "46,XX sex reversal 4.",
"acronym": "SRXX4.",
"accession": "DI-05002",
"synonyms": "46,XX sex reversal SRY-negative.; ",
"cross_references": "MeSH; D058531.",
"definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 3.",
"acronym": "SRXY3.",
"accession": "DI-02465",
"synonyms": "46,XY disorder of sex development.; 46,XY sex reversal partial or complete NR5A1-related.; Complete or partial 46,XY gonadal dysgenesis with or without adrenal failure.; XY sex reversal with or without adrenal failure.; ",
"cross_references": "MeSH; D006061.",
"definition": "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 5.",
"acronym": "SRXY5.",
"accession": "DI-02807",
"synonyms": "46,XY gonadal dysgenesis complete CBX2-related.; 46,XY sex reversal CBX2-related.; Disorder of sex development 46,XY CBX2-related.; Sex reversal XY CBX2-related.; ",
"cross_references": "MeSH; D006061.",
"definition": "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 4.",
"acronym": "SRXY4.",
"accession": "DI-03328",
"synonyms": "46,XY gonadal dysgenesis complete or partial with 9p24.3 deletion.; Chromosome 9p24.3 deletion syndrome.; ",
"cross_references": "MeSH; D006061.",
"definition": "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 1.",
"acronym": "SRXY1.",
"accession": "DI-01682",
"synonyms": "46,XY gonadal dysgenesis complete SRY-related.; 46,XY sex reversal SRY-related.; 46,XY true hermaphroditism SRY-related.; Gonadal dysgenesis XY female type.; Swyer syndrome.; XY females.; ",
"cross_references": "MeSH; D006061.",
"definition": "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 7.",
"acronym": "SRXY7.",
"accession": "DI-01379",
"synonyms": "46,XY gonadal dysgenesis, partial or complete, DHH-related.; 46,XY sex reversal, partial or complete, DHH-related.; Complete pure gonadal dysgenesis 46,XY type.; GDXYM.; Male-limited gonadal dysgenesis 46,XY.; ",
"cross_references": "MeSH; D006061.",
"definition": "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 6.",
"acronym": "SRXY6.",
"accession": "DI-03052",
"synonyms": "46,XY gonadal dysgenesis partial or complete MAP3K1-related.; 46,XY sex reversal partial or complete MAP3K1-related.; ",
"cross_references": "MeSH; D006061.",
"definition": "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 2.",
"acronym": "SRXY2.",
"accession": "DI-02751",
"synonyms": "46,XY sex reversal DAX1-related.; Dosage-sensitive sex reversal.; DSS.; ",
"cross_references": "MeSH; D058490.",
"definition": "A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. ",
"keywords": null
},
{
"identifier": "46,XY sex reversal 9.",
"acronym": "SRXY9.",
"accession": "DI-04251",
"synonyms": "46,XY sex reversal, ZFPM2-related.; ",
"cross_references": "MeSH; D006061.",
"definition": "A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia. ",
"keywords": null
},
{
"identifier": "Hawkinsinuria.",
"acronym": "HWKS.",
"accession": "DI-00540",
"synonyms": "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency.; 4-HPPD deficiency.; 4-hydroxyphenylpyruvic acid dioxygenase deficiency.; ",
"cross_references": "MeSH; D020176.",
"definition": "An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. ",
"keywords": null
}
]
}