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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4720&ordering=synonyms",
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"results": [
{
"identifier": "Hypochondroplasia.",
"acronym": "HCH.",
"accession": "DI-01786",
"synonyms": null,
"cross_references": "MedGen; C0410529.",
"definition": "Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. ",
"keywords": null
},
{
"identifier": "Congenital smooth muscle hamartoma, with or without hemihypertrophy.",
"acronym": "CSMH.",
"accession": "DI-06743",
"synonyms": null,
"cross_references": "MeSH; D006222.",
"definition": "A benign skin lesion that usually presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Hair follicles are normal in number and hyperkeratosis, acanthosis and hyperpigmentation of the basal cell layer can sometimes be seen. Rarely, CSMH is associated with hemihypertrophy. ",
"keywords": null
},
{
"identifier": "Congenital short bowel syndrome, X-linked.",
"acronym": "CSBSX.",
"accession": "DI-03734",
"synonyms": null,
"cross_references": "MeSH; D012778.",
"definition": "A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. ",
"keywords": null
},
{
"identifier": "Hypocalcemia, autosomal dominant 2.",
"acronym": "HYPOC2.",
"accession": "DI-03851",
"synonyms": null,
"cross_references": "MeSH; D006996.",
"definition": "A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. ",
"keywords": null
},
{
"identifier": "Congenital myopathy with excess of muscle spindles.",
"acronym": "CMEMS.",
"accession": "DI-01411",
"synonyms": null,
"cross_references": "MedGen; C1968782.",
"definition": "Variant of Costello syndrome. ",
"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": "Buratti-Harel syndrome.",
"acronym": "BURHAS.",
"accession": "DI-06101",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "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": "Bulimia nervosa 2.",
"acronym": "BULN2.",
"accession": "DI-04567",
"synonyms": null,
"cross_references": "MeSH; D052018.",
"definition": "A psychiatric disorder characterized by eating an unusually large amount of food in a short period of time, followed by inappropriate acts (purging) to avert weight gain. Compensatory behavior includes self-induced vomiting, laxative abuse, and excessive exercise. ",
"keywords": null
},
{
"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": "Congenital myopathy 4B, autosomal recessive.",
"acronym": "CMYP4B.",
"accession": "DI-02032",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "A muscular disorder characterized by muscle weakness appearing in infancy or early childhood. Most affected individuals show congenital contractures, delayed motor development, hypotonia, respiratory insufficiency, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Skeletal muscle biopsy shows variable histologic findings, including nemaline rods, type 1 fiber predomination, and centralized nuclei. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Bryant-Li-Bhoj neurodevelopmental syndrome 2.",
"acronym": "BRYLIB2.",
"accession": "DI-06328",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 14.",
"acronym": "ARVD14.",
"accession": "DI-05863",
"synonyms": null,
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Alopecia-intellectual disability syndrome 4.",
"acronym": "APMR4.",
"accession": "DI-05812",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"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": "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": "Congenital myopathy 2C, severe infantile, autosomal dominant.",
"acronym": "CMYP2C.",
"accession": "DI-06622",
"synonyms": null,
"cross_references": "MeSH; D020512.",
"definition": "An autosomal dominant skeletal muscle disorder characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. ",
"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": "Congenital myopathy 2B, severe infantile, autosomal recessive.",
"acronym": "CMYP2B.",
"accession": "DI-06621",
"synonyms": null,
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. ",
"keywords": null
}
]
}