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=2900&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2860&ordering=-synonyms",
"results": [
{
"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": "Hypogonadotropic hypogonadism 10 with or without anosmia.",
"acronym": "HH10.",
"accession": "DI-03570",
"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-1016:Hypogonadotropic hypogonadism.; "
},
{
"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": "Joubert syndrome 9.",
"acronym": "JBTS9.",
"accession": "DI-00612",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Acromesomelic dysplasia 4.",
"acronym": "AMD4.",
"accession": "DI-06276",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Immunodeficiency 62.",
"acronym": "IMD62.",
"accession": "DI-05587",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells. ",
"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": "Intellectual developmental disorder, autosomal dominant 56.",
"acronym": "MRD56.",
"accession": "DI-05186",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "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": "Noonan syndrome 6.",
"acronym": "NS6.",
"accession": "DI-02558",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 24.",
"acronym": "NPHS24.",
"accession": "DI-06075",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS24 is an autosomal recessive, slowly progressive form. Most patients eventually develop end-stage renal disease. ",
"keywords": null
},
{
"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": "Joubert syndrome 10.",
"acronym": "JBTS10.",
"accession": "DI-02504",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Macrothrombocytopenia, isolated, 1, autosomal dominant.",
"acronym": "MACTHC1.",
"accession": "DI-02623",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. ",
"keywords": null
},
{
"identifier": "Infantile liver failure syndrome 1.",
"acronym": "ILFS1.",
"accession": "DI-03895",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ",
"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": "Spermatogenic failure 41.",
"acronym": "SPGF41.",
"accession": "DI-05694",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities. ",
"keywords": null
}
]
}