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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2520&ordering=-synonyms",
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"results": [
{
"identifier": "Combined oxidative phosphorylation deficiency 36.",
"acronym": "COXPD36.",
"accession": "DI-05238",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Hypoparathyroidism, familial isolated, 2.",
"acronym": "FIH2.",
"accession": "DI-05841",
"synonyms": null,
"cross_references": "MeSH; D007011.",
"definition": "An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 37.",
"acronym": "COXPD37.",
"accession": "DI-05483",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Angiomatoid fibrous histiocytoma.",
"acronym": "AFH.",
"accession": "DI-02611",
"synonyms": null,
"cross_references": "MeSH; D051677.",
"definition": "A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 38.",
"acronym": "COXPD38.",
"accession": "DI-05529",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Genitopatellar syndrome.",
"acronym": "GTPTS.",
"accession": "DI-03437",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. ",
"keywords": null
},
{
"identifier": "Genitourinary and/or brain malformation syndrome.",
"acronym": "GUBS.",
"accession": "DI-05791",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant syndrome characterized by multiple congenital anomalies including urogenital malformations and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 39.",
"acronym": "COXPD39.",
"accession": "DI-05530",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 4.",
"acronym": "COXPD4.",
"accession": "DI-01367",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Ghosal hematodiaphyseal dysplasia.",
"acronym": "GHDD.",
"accession": "DI-01657",
"synonyms": null,
"cross_references": "MedGen; C1856465.",
"definition": "Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 40.",
"acronym": "COXPD40.",
"accession": "DI-05808",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 19.",
"acronym": "BDPLT19.",
"accession": "DI-04294",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 41.",
"acronym": "COXPD41.",
"accession": "DI-05809",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 14 with or without anosmia.",
"acronym": "HH14.",
"accession": "DI-03574",
"synonyms": null,
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 42.",
"acronym": "COXPD42.",
"accession": "DI-05810",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 20.",
"acronym": "BDPLT20.",
"accession": "DI-04706",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 43.",
"acronym": "COXPD43.",
"accession": "DI-05811",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Growth hormone deficiency with pituitary anomalies.",
"acronym": "GHDPA.",
"accession": "DI-02581",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 44.",
"acronym": "COXPD44.",
"accession": "DI-05822",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Premature ovarian failure 17.",
"acronym": "POF17.",
"accession": "DI-05974",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF17 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1066:Premature ovarian failure.; "
}
]
}