{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4760&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4720&ordering=-identifier","results":[{"identifier":"Duane retraction syndrome 3 with or without deafness.","acronym":"DURS3.","accession":"DI-04764","synonyms":null,"cross_references":"MeSH; D004370.","definition":"A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. ","keywords":null},{"identifier":"Duane retraction syndrome 2.","acronym":"DURS2.","accession":"DI-01506","synonyms":null,"cross_references":"MeSH; D004370.","definition":"A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. ","keywords":null},{"identifier":"Duane-radial ray syndrome.","acronym":"DRRS.","accession":"DI-01507","synonyms":"Okihiro syndrome.; ","cross_references":"MedGen; C1623209.","definition":"Disorder characterized by the association of forearm malformations with Duane retraction syndrome. ","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.; "},{"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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}]}