{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3160&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3120&ordering=-identifier","results":[{"identifier":"Kufor-Rakeb syndrome.","acronym":"KRS.","accession":"DI-01870","synonyms":"KRPPD.; Pallidopyramidal degeneration with supranuclear upgaze paresis and dementia.; PARK9.; Parkinson disease 9.; Parkinson disease autosomal recessive 9.; ","cross_references":"MeSH; D020734.","definition":"A rare form of autosomal recessive juvenile or early-onset, levodopa- responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. ","keywords":"KW-0908:Parkinsonism.; "},{"identifier":"Krabbe disease, atypical, due to saposin A deficiency.","acronym":"KRBSAPA.","accession":"DI-01197","synonyms":"Saposin A deficiency.; ","cross_references":"MeSH; D007965.","definition":"An autosomal recessive disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. ","keywords":null},{"identifier":"Krabbe disease.","acronym":"KRB.","accession":"DI-00647","synonyms":"Galactosylceramide beta-galactosidase deficiency.; GALC deficiency.; GCL.; GLD.; Globoid cell leukoencephalopathy.; ","cross_references":"MeSH; D007965.","definition":"An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Kowarski syndrome.","acronym":"KWKS.","accession":"DI-01869","synonyms":"Biodefective growth hormone.; Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin.; ","cross_references":"MeSH; D004393.","definition":"A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Kosaki overgrowth syndrome.","acronym":"KOGS.","accession":"DI-04560","synonyms":"Skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration.; ","cross_references":"MeSH; D006130.","definition":"A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging. ","keywords":null},{"identifier":"Koolen-De Vries syndrome.","acronym":"KDVS.","accession":"DI-05560","synonyms":"Chromosome 17q21.31 deletion syndrome.; Microdeletion 17q21.31 syndrome.; ","cross_references":"MeSH; D000015.","definition":"An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Kohlschuetter-Toenz syndrome.","acronym":"KTZS.","accession":"DI-03440","synonyms":"Kohlschutter-Tonz syndrome.; ","cross_references":"MeSH; D004827.","definition":"An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound intellectual disability, never acquire speech, and become bedridden early in life. ","keywords":"KW-0887:Epilepsy.; KW-0986:Amelogenesis imperfecta.; "},{"identifier":"Knobloch syndrome 2.","acronym":"KNO2.","accession":"DI-06463","synonyms":null,"cross_references":"MeSH; D012163.","definition":"An autosomal dominant form of Knobloch syndrome characterized by high myopia, vitreoretinal degeneration, retinal detachment, occipital encephalocele or scalp lesions, and mild to severe psychomotor delay. ","keywords":null},{"identifier":"Knobloch syndrome 1.","acronym":"KNO1.","accession":"DI-01868","synonyms":"KNO.; Retinal detachment and occipital encephalocele.; ","cross_references":"MeSH; D012163.","definition":"A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. ","keywords":null},{"identifier":"Kniest dysplasia.","acronym":"KD.","accession":"DI-01867","synonyms":"Kniest syndrome.; KS.; Metatropic dwarfism type II.; ","cross_references":"MedGen; C0265279.","definition":"Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. ","keywords":null},{"identifier":"Klippel-Trenaunay syndrome.","acronym":"KTS.","accession":"DI-01866","synonyms":null,"cross_references":"MedGen; C0022739.","definition":"Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. ","keywords":null},{"identifier":"Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism.","acronym":"KFS4.","accession":"DI-04523","synonyms":null,"cross_references":"MeSH; D007714.","definition":"A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies. ","keywords":null},{"identifier":"Klippel-Feil syndrome 3, autosomal dominant.","acronym":"KFS3.","accession":"DI-02973","synonyms":null,"cross_references":"MeSH; D007714.","definition":"A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. ","keywords":null},{"identifier":"Klippel-Feil syndrome 2, autosomal recessive.","acronym":"KFS2.","accession":"DI-03989","synonyms":"Cervical vertebral fusion autosomal recessive.; KFS autosomal recessive.; ","cross_references":"MeSH; D007714.","definition":"A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. ","keywords":null},{"identifier":"Klippel-Feil syndrome 1, autosomal dominant.","acronym":"KFS1.","accession":"DI-02534","synonyms":"Cervical vertebral fusion autosomal dominant.; Cervical vertebral fusion congenital.; Congenital Klippel-Feil segment.; Fused cervical segments congenital.; Isolated Klippel-Feil syndrome.; Klippel-Feil malformation.; Klippel-Feil sequence.; ","cross_references":"MeSH; D007714.","definition":"A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type. ","keywords":null},{"identifier":"Kleefstra syndrome 2.","acronym":"KLEFS2.","accession":"DI-05142","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Kleefstra syndrome 1.","acronym":"KLEFS1.","accession":"DI-01348","synonyms":"9q- syndrome.; Chromosome 9q34.3 deletion syndrome.; Chromosome 9q subtelomeric deletion syndrome.; ","cross_references":"MeSH; D019465.","definition":"A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"KINSSHIP syndrome.","acronym":"KINS.","accession":"DI-06095","synonyms":"Mesomelic dysplasia, AFF3-related.; Mesomelic dysplasia, Steichen-Gersdorf type.; ","cross_references":"MeSH; D014564.","definition":"An autosomal dominant disease characterized by developmental delay, impaired intellectual development, seizures, short stature, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"King-Denborough syndrome.","acronym":"KDS.","accession":"DI-06230","synonyms":"King syndrome.; ","cross_references":"MeSH; D008305.","definition":"An autosomal dominant disorder characterized by the triad of dysmorphic features, congenital myopathy, and susceptibility to malignant hyperthermia. Variable expressivity has been reported in several cases. ","keywords":null},{"identifier":"Kindler syndrome.","acronym":"KNDLRS.","accession":"DI-01865","synonyms":"Bullous acrokeratotic poikiloderma of Kindler and Weary.; Poikiloderma congenital with bullae Weary type.; Poikiloderma hereditary acrokeratotic.; ","cross_references":"MeSH; D012868.","definition":"An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. ","keywords":null}]}