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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1980&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1940&ordering=identifier",
"results": [
{
"identifier": "DiGeorge syndrome.",
"acronym": "DGS.",
"accession": "DI-01487",
"synonyms": "Chromosome 22q11.2 deletion syndrome.; Hypoplasia of thymus and parathyroids.; Third and fourth pharyngeal pouch syndrome.; ",
"cross_references": "MeSH; D004062.",
"definition": "A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. ",
"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": "Digital clubbing, isolated congenital.",
"acronym": "DIGC.",
"accession": "DI-02474",
"synonyms": "Clubbing of digits.; Hereditary acropachy.; ",
"cross_references": "MeSH; D009260.",
"definition": "A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. ",
"keywords": null
},
{
"identifier": "Dihydrolipoamide dehydrogenase deficiency.",
"acronym": "DLDD.",
"accession": "DI-03698",
"synonyms": "DLD deficiency.; E3 deficiency.; Lactic acidosis due to lipoamide dehydrogenase deficiency.; Maple syrup urine disease, type III.; MSUD3.; MSUD type III.; ",
"cross_references": "MeSH; D008375.",
"definition": "An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. ",
"keywords": null
},
{
"identifier": "Dihydropyrimidinase deficiency.",
"acronym": "DPYSD.",
"accession": "DI-01483",
"synonyms": "Dihydropyrimidinuria due to DPYS deficiency.; DPH deficiency.; DPYS deficiency.; ",
"cross_references": "MeSH; D011686.",
"definition": "An autosomal recessive disorder of pyrimidine metabolism characterized by dihydropyrimidinuria. It is associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Most patients are, however, asymptomatic. ",
"keywords": null
},
{
"identifier": "Dihydropyrimidine dehydrogenase deficiency.",
"acronym": "DPYDD.",
"accession": "DI-01488",
"synonyms": "Dihydropyrimidinuria.; DPD deficiency.; DPYD deficiency.; Familial pyrimidinemia.; Hereditary thymine-uraciluria.; ",
"cross_references": "MeSH; D054067.",
"definition": "A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and intellectual disability. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. ",
"keywords": null
},
{
"identifier": "Disabling pansclerotic morphea of childhood.",
"acronym": "DPMC.",
"accession": "DI-06718",
"synonyms": "Scleroderma, juvenile localized.; ",
"cross_references": "MeSH; D012594.",
"definition": "An autosomal dominant, severe systemic inflammatory disorder that is part of the juvenile localized scleroderma spectrum. DPMC is characterized by poor wound healing with rapidly progressive deep fibrosis involving the mucous membranes, dermis, subcutaneous fat, fascia, muscles, and bone, leading to contractures, musculoskeletal atrophy, and articular ankylosis. Systemic manifestations include cytopenias and hypogammaglobulinemia, but scleroderma-associated autoantibodies are usually not present. The disorder is associated with high morbidity and mortality due to squamous-cell carcinoma, restrictive pulmonary disease, sepsis, and gangrene. ",
"keywords": null
},
{
"identifier": "Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency.",
"acronym": "DISPORD.",
"accession": "DI-00601",
"synonyms": "Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency.; Congenital adrenal hyperplasia due to apparent combined P450C17 and P450C21 deficiency.; Cytochrome P450 oxidoreductase deficiency.; Disordered steroidogenesis due to POR deficiency.; POR deficiency.; ",
"cross_references": "MeSH; D000312.",
"definition": "A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"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": "D-lactic aciduria with gout.",
"acronym": "DLACD.",
"accession": "DI-05545",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. ",
"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": "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": "Dominant optic atrophy plus syndrome.",
"acronym": "DOA+.",
"accession": "DI-02096",
"synonyms": "Optic atrophy with or without deafness ophthalmoplegia myopathy ataxia and neuropathy.; ",
"cross_references": "MeSH; D029241.",
"definition": "A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. ",
"keywords": null
},
{
"identifier": "Donnai-Barrow syndrome.",
"acronym": "DBS.",
"accession": "DI-01501",
"synonyms": "DBS/FOAR syndrome.; Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria.; Faciooculoacousticorenal syndrome.; Facio-oculo-acoustico-renal syndrome.; FOAR syndrome.; ",
"cross_references": "MeSH; D065630.",
"definition": "An autosomal recessive syndrome characterized by complete or partial agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss, developmental delay, and proteinuria. There is variability in the expression of some features, such as diaphragmatic hernia, corpus callosum anomalies and proteinuria. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Dowling-Degos disease 1.",
"acronym": "DDD1.",
"accession": "DI-01503",
"synonyms": "DDD.; Reticular pigment anomaly of flexures.; ",
"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 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": "Doyne honeycomb retinal dystrophy.",
"acronym": "DHRD.",
"accession": "DI-01504",
"synonyms": "Doyne honeycomb degeneration of retina.; Drusen, radial, autosomal dominant.; Malattia leventinese.; ML.; MLVT.; ",
"cross_references": "MeSH; D015593.",
"definition": "An autosomal dominant, progressive, ocular disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. With age, drusen increase in size and number, and eventually cause visual symptoms, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma. ",
"keywords": null
},
{
"identifier": "Dravet syndrome.",
"acronym": "DRVT.",
"accession": "DI-01023",
"synonyms": "Borderline SMEI.; DEE6A.; Developmental and epileptic encephalopathy 6A.; EIEE6.; Epileptic encephalopathy, early infantile, 6.; Severe myoclonic epilepsy in infancy.; SMEB.; SMEB-M.; SMEB-O.; SMEB-SW.; SMEI.; SMEI-borderland.; SMEI-borderland more than one feature.; SMEI-borderland-myoclonic seizures.; SMEI-borderland-spike wave.; ",
"cross_references": "MeSH; D004831.",
"definition": "A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core DRVT. DRVT is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}