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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3580&ordering=identifier",
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"results": [
{
"identifier": "Keutel syndrome.",
"acronym": "KTLS.",
"accession": "DI-01864",
"synonyms": null,
"cross_references": "MedGen; C1855607.",
"definition": "An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. ",
"keywords": null
},
{
"identifier": "Khan-Khan-Katsanis syndrome.",
"acronym": "3KS.",
"accession": "DI-05588",
"synonyms": "3K syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. ",
"keywords": null
},
{
"identifier": "Kilquist syndrome.",
"acronym": "KILQS.",
"accession": "DI-05956",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, multisystem disorder characterized by severe global developmental delay, sensorineural hearing loss, poor overall growth, mild facial dysmorphism, gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, and a striking lack of tear fluid, saliva, and sweat. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"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
},
{
"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": "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": "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": "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": "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": "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 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 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-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": "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": "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": "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": "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": "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": "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": "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.; "
}
]
}