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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5520&ordering=synonyms",
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"results": [
{
"identifier": "Hyperparathyroidism 4.",
"acronym": "HRPT4.",
"accession": "DI-04951",
"synonyms": null,
"cross_references": "MeSH; D049950.",
"definition": "A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism, transient neonatal.",
"acronym": "HRPTTN.",
"accession": "DI-05388",
"synonyms": null,
"cross_references": "MeSH; D006961.",
"definition": "An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia.",
"acronym": "HPA.",
"accession": "DI-01781",
"synonyms": null,
"cross_references": "MedGen; C2678416.",
"definition": "Mildest form of phenylalanine hydroxylase deficiency. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 15.",
"acronym": "BBS15.",
"accession": "DI-02938",
"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": "Bardet-Biedl syndrome 14.",
"acronym": "BBS14.",
"accession": "DI-02607",
"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": "Becker muscular dystrophy.",
"acronym": "BMD.",
"accession": "DI-00178",
"synonyms": null,
"cross_references": "MeSH; D020388.",
"definition": "A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia, mild, non-BH4-deficient.",
"acronym": "HPANBH4.",
"accession": "DI-04966",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. ",
"keywords": null
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 6.",
"acronym": "HPMRS6.",
"accession": "DI-04648",
"synonyms": null,
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperproinsulinemia.",
"acronym": "HPRI.",
"accession": "DI-01585",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. ",
"keywords": null
},
{
"identifier": "Hyperprolactinemia.",
"acronym": "HPRL.",
"accession": "DI-03975",
"synonyms": null,
"cross_references": "MeSH; D006966.",
"definition": "A disorder characterized by increased levels of prolactin in the blood not associated with gestation or the puerperium. HPRL may result in infertility, hypogonadism, and galactorrhea. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 13.",
"acronym": "BBS13.",
"accession": "DI-03087",
"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": "Hypersulfaturia.",
"acronym": "HYSULF.",
"accession": "DI-06685",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "An autosomal recessive inborn error of sulfate homeostasis resulting in urinary sulfate wasting and low plasma sulfate. Clinical features include costochondritis, perichondritis of the costovertebral joints, and chest pain. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 12.",
"acronym": "BBS12.",
"accession": "DI-01269",
"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": "Bardet-Biedl syndrome 11.",
"acronym": "BBS11.",
"accession": "DI-00169",
"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": "Bardet-Biedl syndrome 10.",
"acronym": "BBS10.",
"accession": "DI-00168",
"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": "Bardet-Biedl syndrome 1.",
"acronym": "BBS1.",
"accession": "DI-00159",
"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": "Hypertriglyceridemia 2.",
"acronym": "HYTG2.",
"accession": "DI-06131",
"synonyms": null,
"cross_references": "MeSH; D015228.",
"definition": "An autosomal dominant form of hypertriglyceridemia, a disorder characterized by elevated plasma triglyceride levels. HYTG2 patients also have increased total cholesterol levels and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed. ",
"keywords": null
},
{
"identifier": "Hypertriglyceridemia, transient infantile.",
"acronym": "HTGTI.",
"accession": "DI-03387",
"synonyms": null,
"cross_references": "MeSH; D015228.",
"definition": "An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. ",
"keywords": null
},
{
"identifier": "Hypertrophic osteoarthropathy, primary, autosomal dominant.",
"acronym": "PHOAD.",
"accession": "DI-06152",
"synonyms": null,
"cross_references": "MeSH; D010004.",
"definition": "A form of primary hypertrophic osteoarthropathy, a disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. PHOAD patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females. ",
"keywords": null
},
{
"identifier": "Baraitser-Winter syndrome 2.",
"acronym": "BRWS2.",
"accession": "DI-03417",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}