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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3480&ordering=identifier",
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"results": [
{
"identifier": "IVIC syndrome.",
"acronym": "IVIC.",
"accession": "DI-01846",
"synonyms": "Oculootoradial syndrome.; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome with a similar phenotype. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Jaberi-Elahi syndrome.",
"acronym": "JABELS.",
"accession": "DI-05251",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Jackson-Weiss syndrome.",
"acronym": "JWS.",
"accession": "DI-00602",
"synonyms": "Craniosynostosis-midfacial hypoplasia-foot abnormalities.; ",
"cross_references": "MeSH; D005532.",
"definition": "An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Jalili syndrome.",
"acronym": "JALIS.",
"accession": "DI-00603",
"synonyms": "Cone-rod dystrophy and amelogenesis imperfecta.; ",
"cross_references": "MeSH; D012164.",
"definition": "A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Jansen-de Vries syndrome.",
"acronym": "JDVS.",
"accession": "DI-04996",
"synonyms": "IDDGIP.; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Jawad syndrome.",
"acronym": "JWDS.",
"accession": "DI-03354",
"synonyms": "Kelly syndrome.; ",
"cross_references": "MeSH; D017880.",
"definition": "A syndrome characterized by congenital microcephaly, moderately severe intellectual disability, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Jeffries-Lakhani neurodevelopmental syndrome.",
"acronym": "JELANS.",
"accession": "DI-06870",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, early-onset epilepsy, and hypotonia apparent from infancy. Clinical features include motor delay, speech delay, and impaired intellectual development. About half of patients are non- ambulatory and/or non-verbal. Some patients have cardiac rhythm disturbances, and some experience recurrent infections. Premature death due to cardiac arrhythmia or epilepsy may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Jervell and Lange-Nielsen syndrome 1.",
"acronym": "JLNS1.",
"accession": "DI-00604",
"synonyms": "Cardioauditory syndrome of Jervell and Lange-Nielsen.; Congenital deafness and functional heart disease.; Long QT interval-deafness.; Prolonged QT interval in EKG and sudden death.; Surdo-cardiac syndrome.; ",
"cross_references": "MeSH; D029593.",
"definition": "An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. ",
"keywords": "KW-0209:Deafness.; KW-0454:Long QT syndrome.; "
},
{
"identifier": "Jervell and Lange-Nielsen syndrome 2.",
"acronym": "JLNS2.",
"accession": "DI-00605",
"synonyms": "Cardioauditory syndrome of Jervell and Lange-Nielsen.; Congenital deafness and functional heart disease.; Long QT interval-deafness.; Prolonged QT interval in EKG and sudden death.; Surdo-cardiac syndrome.; ",
"cross_references": "MeSH; D029593.",
"definition": "An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. ",
"keywords": "KW-0209:Deafness.; KW-0454:Long QT syndrome.; "
},
{
"identifier": "Johanson-Blizzard syndrome.",
"acronym": "JBS.",
"accession": "DI-01849",
"synonyms": null,
"cross_references": "MedGen; C0175692.",
"definition": "This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and intellectual disability. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. ",
"keywords": null
},
{
"identifier": "Joint contractures, osteochondromas, and B-cell lymphoma.",
"acronym": "JCOSL.",
"accession": "DI-06599",
"synonyms": null,
"cross_references": "MeSH; D016393.",
"definition": "An autosomal recessive disorder characterized by musculoskeletal and hematopoietic issues. Affected individuals develop painless fixed joint contractures in early childhood, have osteochondromas, osteopenia, and can develop B-cell lymphomas. ",
"keywords": null
},
{
"identifier": "Joint laxity, short stature, and myopia.",
"acronym": "JLSM.",
"accession": "DI-05096",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Joubert syndrome 1.",
"acronym": "JBTS1.",
"accession": "DI-02532",
"synonyms": "Cerebellooculorenal syndrome 1.; Cerebello-oculo-renal syndrome 1.; Cerebelloparenchymal disorder IV.; CORS1.; CPD4.; JBTS.; Joubert-Boltshauser syndrome.; joubert syndrome.; ",
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 10.",
"acronym": "JBTS10.",
"accession": "DI-02504",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 11.",
"acronym": "JBTS11.",
"accession": "DI-03108",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 12.",
"acronym": "JBTS12.",
"accession": "DI-03219",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 13.",
"acronym": "JBTS13.",
"accession": "DI-03232",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 14.",
"acronym": "JBTS14.",
"accession": "DI-03313",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 15.",
"acronym": "JBTS15.",
"accession": "DI-03314",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 16.",
"acronym": "JBTS16.",
"accession": "DI-03315",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. ",
"keywords": "KW-0979:Joubert syndrome.; "
}
]
}