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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6700&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6660&ordering=-synonyms",
"results": [
{
"identifier": "Leukodystrophy, hypomyelinating, 11.",
"acronym": "HLD11.",
"accession": "DI-04497",
"synonyms": "4H leukodystrophy 3.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.",
"acronym": "HLD8.",
"accession": "DI-03308",
"synonyms": "4H leukodystrophy 2.; Cerebellar hypoplasia with endosteal sclerosis.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism.",
"acronym": "HLD7.",
"accession": "DI-03248",
"synonyms": "4H leukodystrophy 1.; 4H syndrome.; ADDH.; Ataxia delayed dentition and hypomyelination.; Leukodystrophy hypomyelinating with hypodontia and hypogonadotropic hypogonadism 4H syndrome.; Leukodystrophy with oligodontia.; Leukoencephalopathy hypomyelinating with ataxia and delayed dentition.; TACH.; Tremor-ataxia with central hypomyelination.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"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
},
{
"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": "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 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 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 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 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 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 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,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,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 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 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": "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": "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 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": "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.; "
}
]
}