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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=940&ordering=-synonyms",
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"results": [
{
"identifier": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.",
"acronym": "CANVAS.",
"accession": "DI-05548",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Cerebellar atrophy with seizures and variable developmental delay.",
"acronym": "CASVDD.",
"accession": "DI-05616",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cerebellar atrophy, developmental delay, and seizures.",
"acronym": "CADEDS.",
"accession": "DI-05076",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cerebellar atrophy, visual impairment, and psychomotor retardation.",
"acronym": "CAVIPMR.",
"accession": "DI-04673",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 8.",
"acronym": "COQ10D8.",
"accession": "DI-04625",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 3.",
"acronym": "COQ10D3.",
"accession": "DI-03447",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism.",
"acronym": "CDIDHH.",
"accession": "DI-06352",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by delayed motor development, ataxia with cerebellar hypoplasia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed puberty with congenital hypogonadotropic hypogonadism. ",
"keywords": "KW-0991:Intellectual disability.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.",
"acronym": "CHEGDD.",
"accession": "DI-05744",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar, ocular, craniofacial, and genital syndrome.",
"acronym": "COFG.",
"accession": "DI-05597",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Auriculocondylar syndrome 2A.",
"acronym": "ARCND2A.",
"accession": "DI-03468",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Auriculocondylar syndrome 2B.",
"acronym": "ARCND2B.",
"accession": "DI-06730",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Congenital afibrinogenemia.",
"acronym": "CAFBN.",
"accession": "DI-01387",
"synonyms": null,
"cross_references": "MedGen; CN071205.",
"definition": "Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. ",
"keywords": null
},
{
"identifier": "Auriculocondylar syndrome 3.",
"acronym": "ARCND3.",
"accession": "DI-04052",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 9.",
"acronym": "PFIC9.",
"accession": "DI-06404",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in infancy or early childhood. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Auriculocondylar syndrome 4.",
"acronym": "ARCND4.",
"accession": "DI-06729",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A5.",
"acronym": "AI2A5.",
"accession": "DI-04153",
"synonyms": null,
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Autism 15.",
"acronym": "AUTS15.",
"accession": "DI-02792",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 3.",
"acronym": "CDCBM3.",
"accession": "DI-03884",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1W.",
"acronym": "CMD1W.",
"accession": "DI-00225",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 6, with pyloric atresia.",
"acronym": "JEB6.",
"accession": "DI-06343",
"synonyms": null,
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
}
]
}