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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=920&ordering=identifier",
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"results": [
{
"identifier": "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction.",
"acronym": "CCHS2.",
"accession": "DI-06200",
"synonyms": null,
"cross_references": "MeSH; D007040.",
"definition": "An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. ",
"keywords": null
},
{
"identifier": "Central hypoventilation syndrome, congenital, 3.",
"acronym": "CCHS3.",
"accession": "DI-06215",
"synonyms": null,
"cross_references": "MeSH; D007040.",
"definition": "A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.",
"acronym": "CAPOS.",
"accession": "DI-04236",
"synonyms": "CAPOS syndrome.; ",
"cross_references": "MeSH; D009896.",
"definition": "An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Cerebellar ataxia, brain abnormalities, and cardiac conduction defects.",
"acronym": "CABAC.",
"accession": "DI-06242",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar ataxia, cayman type.",
"acronym": "ATCAY.",
"accession": "DI-01333",
"synonyms": null,
"cross_references": "MedGen; C1832585.",
"definition": "Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.",
"acronym": "ADCADN.",
"accession": "DI-03793",
"synonyms": null,
"cross_references": "MeSH; D009290.",
"definition": "An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1.",
"acronym": "CAMRQ1.",
"accession": "DI-02742",
"synonyms": "Cerebellar hypoplasia VLDLR-associated.; DES.; Dysequilibrium syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, intellectual disability, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.",
"acronym": "CAMRQ2.",
"accession": "DI-03450",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.",
"acronym": "CAMRQ3.",
"accession": "DI-02743",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4.",
"acronym": "CAMRQ4.",
"accession": "DI-03773",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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, 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": "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 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 dysfunction with variable cognitive and behavioral abnormalities.",
"acronym": "CECBA.",
"accession": "DI-03530",
"synonyms": "CANPMR.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Cerebellofaciodental syndrome.",
"acronym": "CFDS.",
"accession": "DI-04315",
"synonyms": "Cerebellar-facial-dental syndrome.; ",
"cross_references": "MeSH; D019066.",
"definition": "An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebral amyloid angiopathy, APP-related.",
"acronym": "CAA-APP.",
"accession": "DI-00097",
"synonyms": "Amyloidosis cerebroarterial APP-related.; Amyloidosis hereditary with cerebral hemorrhage Dutch variant.; Cerebral amyloid angiopathy APP-related Arctic variant.; Cerebral amyloid angiopathy APP-related Dutch variant.; Cerebral amyloid angiopathy APP-related Flemish variant.; Cerebral amyloid angiopathy APP-related Iowa variant.; Cerebral amyloid angiopathy APP-related Italian variant.; Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia.; FOCHS-LADD.; HCHWAD.; HCHWA-D.; Hereditary cerebral amyloid angiopathy Dutch type.; Hereditary cerebral hemorrhage with amyloidosis Dutch type.; Hereditary cerebral hemorrhage with amyloidosis Italian type.; ",
"cross_references": "MeSH; D028243.",
"definition": "A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications. ",
"keywords": "KW-1008:Amyloidosis.; "
}
]
}