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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=940",
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"results": [
{
"identifier": "Cerebral amyloid angiopathy, CST3-related.",
"acronym": "CAA-CST3.",
"accession": "DI-00102",
"synonyms": "ACys.; CAA.; Cerebral amyloid angiopathy.; Cerebral amyloid angiopathy CST3-related.; Cerebroarterial amyloidosis Icelandic type.; Cystatin C amyloidosis.; HCCAA.; HCHWA.; HCHWAI.; HCHWA-I.; Hereditary cerebral hemorrhage with amyloidosis.; Hereditary cerebral hemorrhage with amyloidosis Icelandic type.; Hereditary cystatin C amyloid angiopathy.; ",
"cross_references": "MeSH; D028243.",
"definition": "An autosomal dominant disorder characterized by cystatin C amyloid accumulation in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in intracranial hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Cerebral amyloid angiopathy, ITM2B-related 1.",
"acronym": "CAA-ITM2B1.",
"accession": "DI-02619",
"synonyms": "Cerebral amyloid angiopathy British type.; Familial British dementia.; FBD.; Presenile dementia with spastic ataxia.; ",
"cross_references": "MeSH; D028243.",
"definition": "A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Cerebral amyloid angiopathy, ITM2B-related 2.",
"acronym": "CAA-ITM2B2.",
"accession": "DI-02617",
"synonyms": "Cerebellar ataxia cataract deafness and dementia or psychosis.; Familial Danish dementia.; FDD.; Heredopathia ophthalmootoencephalica.; HOOE.; ",
"cross_references": "MeSH; D028243.",
"definition": "A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1.",
"acronym": "CADASIL1.",
"accession": "DI-01334",
"synonyms": "CADASIL.; CASIL.; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant.; Dementia hereditary multiinfarct type.; Dementia hereditary multi-infarct type.; ",
"cross_references": "MeSH; D046589.",
"definition": "A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. ",
"keywords": null
},
{
"identifier": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2.",
"acronym": "CADASIL2.",
"accession": "DI-04641",
"synonyms": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, 2.; ",
"cross_references": "MeSH; D046589.",
"definition": "A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. ",
"keywords": null
},
{
"identifier": "Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy.",
"acronym": "CARASIL.",
"accession": "DI-02549",
"synonyms": "CARASIL syndrome.; Cerebrovascular disease with thin skin, alopecia, and disk disease.; Maeda syndrome.; Progressive subcortical vascular encephalopathy.; Subcortical vascular encephalopathy, progressive.; ",
"cross_references": "MeSH; D015140.",
"definition": "A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 1.",
"acronym": "CCM1.",
"accession": "DI-00255",
"synonyms": "Cavernous angiomatous malformations.; Cavernous hemangioma of the brain.; Cerebral capillary malformations.; Cerebral cavernoma.; Familial cavernous angioma.; ",
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 2.",
"acronym": "CCM2.",
"accession": "DI-00256",
"synonyms": "Cavernous angiomatous malformations.; Cavernous hemangioma of the brain.; Cerebral capillary malformations.; Cerebral cavernoma.; Familial cavernous angioma.; ",
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 3.",
"acronym": "CCM3.",
"accession": "DI-00257",
"synonyms": "Cavernous angiomatous malformations.; Cavernous hemangioma of the brain.; Cerebral capillary malformations.; Cerebral cavernoma.; Familial cavernous angioma.; ",
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 4.",
"acronym": "CCM4.",
"accession": "DI-06256",
"synonyms": null,
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically. ",
"keywords": null
},
{
"identifier": "Cerebral creatine deficiency syndrome 1.",
"acronym": "CCDS1.",
"accession": "DI-02440",
"synonyms": "Creatine transporter defect.; X-linked creatine deficiency syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebral creatine deficiency syndrome 2.",
"acronym": "CCDS2.",
"accession": "DI-01690",
"synonyms": "Creatine deficiency syndrome due to GAMT deficiency.; GAMT deficiency.; Guanidinoacetate methyltransferase deficiency.; ",
"cross_references": "MeSH; D009069.",
"definition": "An autosomal recessive disorder characterized by developmental delay and regression, intellectual disability, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. ",
"keywords": null
},
{
"identifier": "Cerebral creatine deficiency syndrome 3.",
"acronym": "CCDS3.",
"accession": "DI-01189",
"synonyms": "AGAT deficiency.; Arginine:glycine amidinotransferase deficiency.; Creatine deficiency syndrome due to AGAT deficiency.; GATM deficiency.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. ",
"keywords": null
},
{
"identifier": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.",
"acronym": "CEDNIK.",
"accession": "DI-00251",
"synonyms": "CEDNIK syndrome.; ",
"cross_references": "MeSH; D020752.",
"definition": "A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. ",
"keywords": "KW-0622:Neuropathy.; KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 1.",
"acronym": "CPSQ1.",
"accession": "DI-01261",
"synonyms": "Autosomal recessive symmetric spastic cerebral palsy 1.; ",
"cross_references": "MeSH; D002547.",
"definition": "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, intellectual disability and sometimes epilepsy can be part of the clinical picture. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 2.",
"acronym": "CPSQ2.",
"accession": "DI-02559",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of intellectual disability. Neuroimaging shows brain atrophy and ventriculomegaly. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 3.",
"acronym": "CPSQ3.",
"accession": "DI-04750",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. ",
"keywords": null
},
{
"identifier": "Cerebrocostomandibular syndrome.",
"acronym": "CCMS.",
"accession": "DI-04367",
"synonyms": "CCM syndrome.; Cerebro-costo-mandibular syndrome.; Rib gap defects with micrognathia.; ",
"cross_references": "MeSH; D008844.",
"definition": "A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 1.",
"acronym": "COFS1.",
"accession": "DI-00258",
"synonyms": "COFS syndrome.; Pena-Shokeir syndrome type 2.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 2.",
"acronym": "COFS2.",
"accession": "DI-00259",
"synonyms": "COFS syndrome.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
}
]
}