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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4300&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4260&ordering=-synonyms",
"results": [
{
"identifier": "Kenny-Caffey syndrome 1.",
"acronym": "KCS1.",
"accession": "DI-01859",
"synonyms": "KCS.; Kenny-Caffey syndrome autosomal recessive.; ",
"cross_references": "MeSH; D006958.",
"definition": "An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Arboleda-Tham syndrome.",
"acronym": "ARTHS.",
"accession": "DI-04351",
"synonyms": "KAT6A syndrome.; MRD32.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Interstitial nephritis, karyomegalic.",
"acronym": "KMIN.",
"accession": "DI-03532",
"synonyms": "Karyomegalic tubulointerstitial nephritis.; KTN.; ",
"cross_references": "MeSH; D009395.",
"definition": "A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life. ",
"keywords": null
},
{
"identifier": "Immunoglobulin kappa light chain deficiency.",
"acronym": "IGKCD.",
"accession": "DI-03204",
"synonyms": "Kappa chain deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disease characterized by the complete absence of immunoglobulin kappa chains. ",
"keywords": null
},
{
"identifier": "Hypogonadotropic hypogonadism 6 with or without anosmia.",
"acronym": "HH6.",
"accession": "DI-00622",
"synonyms": "KAL6.; Kallmann syndrome 6.; ",
"cross_references": "MeSH; D017436.",
"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": "Hypogonadotropic hypogonadism 5 with or without anosmia.",
"acronym": "HH5.",
"accession": "DI-00621",
"synonyms": "KAL5.; Kallmann syndrome 5.; ",
"cross_references": "MeSH; D017436.",
"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": "Hypogonadotropic hypogonadism 4 with or without anosmia.",
"acronym": "HH4.",
"accession": "DI-00620",
"synonyms": "KAL4.; Kallmann syndrome 4.; ",
"cross_references": "MeSH; D017436.",
"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": "Hypogonadotropic hypogonadism 3 with or without anosmia.",
"acronym": "HH3.",
"accession": "DI-00619",
"synonyms": "KAL3.; Kallmann syndrome 3.; ",
"cross_references": "MeSH; D017436.",
"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": "Hypogonadotropic hypogonadism 2 with or without anosmia.",
"acronym": "HH2.",
"accession": "DI-00618",
"synonyms": "KAL2.; Kallmann syndrome 2.; ",
"cross_references": "MeSH; D017436.",
"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": "Kabuki syndrome 1.",
"acronym": "KABUK1.",
"accession": "DI-02865",
"synonyms": "Kabuki make-up syndrome.; Kabuki syndrome.; KMS.; Niikawa-Kuroki syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant, congenital syndrome characterized by intellectual disability and additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Rheumatoid arthritis systemic juvenile.",
"acronym": "RASJ.",
"accession": "DI-02819",
"synonyms": "Juvenile-onset Still disease.; ",
"cross_references": "MeSH; D001171.",
"definition": "An inflammatory articular disorder with systemic onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis. ",
"keywords": null
},
{
"identifier": "Senior-Loken syndrome 1.",
"acronym": "SLSN1.",
"accession": "DI-01009",
"synonyms": "Juvenile nephronophthisis with Leber amaurosis.; Renal dysplasia and retinal aplasia.; ",
"cross_references": "MeSH; D057130.",
"definition": "A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-0980:Senior-Loken syndrome.; KW-0983:Nephronophthisis.; "
},
{
"identifier": "Nephronophthisis 4.",
"acronym": "NPHP4.",
"accession": "DI-00806",
"synonyms": "Juvenile nephronophthisis 4.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Stargardt disease 1.",
"acronym": "STGD1.",
"accession": "DI-01084",
"synonyms": "Juvenile macular degeneration.; Macular dystrophy with flecks type 1.; Stargardt's disease.; ",
"cross_references": "MeSH; D003317.",
"definition": "A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. ",
"keywords": "KW-0751:Stargardt disease.; "
},
{
"identifier": "Leukemia, juvenile myelomonocytic.",
"acronym": "JMML.",
"accession": "DI-01851",
"synonyms": "Juvenile chronic myelogenous leukemia.; ",
"cross_references": "MeSH; D054429.",
"definition": "An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. ",
"keywords": null
},
{
"identifier": "Periodontititis, aggressive, 1.",
"acronym": "AP1.",
"accession": "DI-01853",
"synonyms": "JPD.; Juvenile periodontitis.; PPP.; Prepubertal periodontitis.; ",
"cross_references": "MeSH; D010520.",
"definition": "A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. ",
"keywords": null
},
{
"identifier": "Glaucoma 1, open angle, A.",
"acronym": "GLC1A.",
"accession": "DI-00937",
"synonyms": "JOAG1.; Juvenile-onset primary open angle glaucoma 1.; Primary open angle glaucoma 1A.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Juvenile polyposis syndrome.",
"acronym": "JPS.",
"accession": "DI-01854",
"synonyms": "JIP.; Juvenile intestinal polyposis.; ",
"cross_references": "MedGen; C1868081.",
"definition": "Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. ",
"keywords": null
},
{
"identifier": "Juvenile myoclonic epilepsy 1.",
"acronym": "EJM1.",
"accession": "DI-00615",
"synonyms": "Janz syndrome.; JME.; Petit mal impulsive.; Susceptibility to juvenile myoclonic epilepsy 1.; ",
"cross_references": "MeSH; D020190.",
"definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 2.",
"acronym": "CLN2.",
"accession": "DI-00811",
"synonyms": "Jansky-Bielschowsky disease.; Late-infantile neuronal ceroid lipofuscinosis.; LINCL.; Neuronal ceroid lipofuscinosis 2 with variable age at onset.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
}
]
}