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=2000&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1960&ordering=-synonyms",
"results": [
{
"identifier": "Digital arthropathy-brachydactyly, familial.",
"acronym": "FDAB.",
"accession": "DI-03486",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. ",
"keywords": null
},
{
"identifier": "Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies.",
"acronym": "GKAF.",
"accession": "DI-06106",
"synonyms": null,
"cross_references": "MeSH; D000505.",
"definition": "An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypospadias 1, X-linked.",
"acronym": "HYSP1.",
"accession": "DI-03834",
"synonyms": null,
"cross_references": "MeSH; D007021.",
"definition": "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. ",
"keywords": null
},
{
"identifier": "Heterotaxy, visceral, 8, autosomal.",
"acronym": "HTX8.",
"accession": "DI-04866",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Hemorrhagic destruction of the brain with subependymal calcification and cataracts.",
"acronym": "HDBSCC.",
"accession": "DI-03021",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. ",
"keywords": null
},
{
"identifier": "Hypogonadotropic hypogonadism 9 with or without anosmia.",
"acronym": "HH9.",
"accession": "DI-03569",
"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": "Intellectual developmental disorder, X-linked 112.",
"acronym": "XLID112.",
"accession": "DI-06714",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by developmental delay, impaired intellectual development, language and motor delay, autism or autistic traits, and variable dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; "
},
{
"identifier": "Familial gestational hyperthyroidism.",
"acronym": "HTFG.",
"accession": "DI-02821",
"synonyms": null,
"cross_references": "MeSH; D006980.",
"definition": "A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy. ",
"keywords": null
},
{
"identifier": "Distal myopathy with anterior tibial onset.",
"acronym": "DMAT.",
"accession": "DI-01494",
"synonyms": null,
"cross_references": "MedGen; C1847532.",
"definition": "Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "DMGDH deficiency.",
"acronym": "DMGDHD.",
"accession": "DI-01497",
"synonyms": null,
"cross_references": "MedGen; C1853892.",
"definition": "Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine. ",
"keywords": null
},
{
"identifier": "Dominant nonimmune chronic idiopathic neutropenia of adults.",
"acronym": "NI-CINA.",
"accession": "DI-01499",
"synonyms": null,
"cross_references": "MedGen; C1842930.",
"definition": "Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients. ",
"keywords": null
},
{
"identifier": "Autoinflammation with infantile enterocolitis.",
"acronym": "AIFEC.",
"accession": "DI-04246",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. ",
"keywords": null
},
{
"identifier": "Dominantly inherited venous malformations.",
"acronym": "VMCM.",
"accession": "DI-01500",
"synonyms": null,
"cross_references": "MedGen; C1838437.",
"definition": "An error of vascular morphogenesis characterized by dilated, serpiginous channels. ",
"keywords": null
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 4.",
"acronym": "EKVP4.",
"accession": "DI-05020",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Autoinflammation with pulmonary and cutaneous vasculitis.",
"acronym": "AIPCV.",
"accession": "DI-06633",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ",
"keywords": null
},
{
"identifier": "Dowling-Degos disease 2.",
"acronym": "DDD2.",
"accession": "DI-03821",
"synonyms": null,
"cross_references": "MeSH; D017495.",
"definition": "An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. ",
"keywords": null
},
{
"identifier": "Dowling-Degos disease 4.",
"acronym": "DDD4.",
"accession": "DI-04044",
"synonyms": null,
"cross_references": "MeSH; D017495.",
"definition": "A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. ",
"keywords": null
},
{
"identifier": "Hereditary fructose intolerance.",
"acronym": "HFI.",
"accession": "DI-01713",
"synonyms": null,
"cross_references": "MedGen; C0016751.",
"definition": "Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. ",
"keywords": null
},
{
"identifier": "Autoinflammation, antibody deficiency, and immune dysregulation.",
"acronym": "APLAID.",
"accession": "DI-03601",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. ",
"keywords": null
},
{
"identifier": "Moyamoya disease 5.",
"acronym": "MYMY5.",
"accession": "DI-03141",
"synonyms": null,
"cross_references": "MeSH; D009072.",
"definition": "A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. ",
"keywords": null
}
]
}