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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3580&ordering=synonyms",
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"results": [
{
"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": "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": "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": "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": "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": "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": "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": "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": "Advanced sleep phase syndrome, familial, 1.",
"acronym": "FASPS1.",
"accession": "DI-01548",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"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": "Autoinflammation with arthritis and dyskeratosis.",
"acronym": "AIADK.",
"accession": "DI-04967",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Autoimmune thyroid disease 3.",
"acronym": "AITD3.",
"accession": "DI-02878",
"synonyms": null,
"cross_references": "MeSH; D013967.",
"definition": "A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. ",
"keywords": null
},
{
"identifier": "Amyloidosis, primary localized cutaneous, 2.",
"acronym": "PLCA2.",
"accession": "DI-03102",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Diarrhea 9.",
"acronym": "DIAR9.",
"accession": "DI-05373",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive form of chronic diarrhea characterized by neonatal-onset of osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat. ",
"keywords": null
},
{
"identifier": "Diarrhea 8, secretory sodium, congenital.",
"acronym": "DIAR8.",
"accession": "DI-04683",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations. ",
"keywords": null
},
{
"identifier": "Diarrhea 7, protein-losing enteropathy type.",
"acronym": "DIAR7.",
"accession": "DI-04130",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "A life-threatening disease characterized by severe, intractable, watery diarrhea. ",
"keywords": null
},
{
"identifier": "Diarrhea 6.",
"acronym": "DIAR6.",
"accession": "DI-03451",
"synonyms": null,
"cross_references": "MeSH; D003967.",
"definition": "A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis. ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease 4J.",
"acronym": "CMT4J.",
"accession": "DI-00291",
"synonyms": null,
"cross_references": "MeSH; D002607.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spermatogenic failure 36.",
"acronym": "SPGF36.",
"accession": "DI-05555",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. ",
"keywords": null
},
{
"identifier": "Diaphragmatic hernia 5, X-linked.",
"acronym": "DIH5.",
"accession": "DI-06800",
"synonyms": null,
"cross_references": "MeSH; D065630.",
"definition": "A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. DIH5 is usually transmitted in an X-linked recessive pattern with males being severely affected. Early death is frequent. ",
"keywords": null
}
]
}