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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1080",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1040",
"results": [
{
"identifier": "Cholesteryl ester storage disease.",
"acronym": "CESD.",
"accession": "DI-00301",
"synonyms": "Cholesterol ester hydrolase deficiency, partial.; Cholesterol ester storage disease.; LAL deficiency, partial.; LIPA deficiency, partial.; Lysosomal acid lipase deficiency, partial.; ",
"cross_references": "MeSH; D015223.",
"definition": "An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood. ",
"keywords": null
},
{
"identifier": "Chondrocalcinosis 2.",
"acronym": "CCAL2.",
"accession": "DI-01342",
"synonyms": "Calcium gout.; Calcium pyrophosphate arthropathy.; Calcium pyrophosphate dihydrate deposition disease.; Calcium pyrophosphate dihydrate deposition disease 2.; Chondrocalcinosis, familial articular.; CPPDD.; CPPDD2.; Familial articular chondrocalcinosis.; ",
"cross_references": "MeSH; D002805.",
"definition": "Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia Blomstrand type.",
"acronym": "BOCD.",
"accession": "DI-01343",
"synonyms": null,
"cross_references": "MedGen; C1859148.",
"definition": "Severe skeletal dysplasia. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia punctata 1, X-linked recessive.",
"acronym": "CDPX1.",
"accession": "DI-00302",
"synonyms": "Chondrodysplasia punctata brachytelephalangic.; ",
"cross_references": "MeSH; D002806.",
"definition": "A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia punctata 2, X-linked dominant.",
"acronym": "CDPX2.",
"accession": "DI-00303",
"synonyms": "CHH.; Conradi-Hunermann-Happle syndrome.; Conradi-Hunermann syndrome.; Happle syndrome.; ",
"cross_references": "MeSH; D002806.",
"definition": "A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8- dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. ",
"keywords": "KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0977:Ichthyosis.; "
},
{
"identifier": "Chondrodysplasia with joint dislocations, GPAPP type.",
"acronym": "CDP-GPAPP.",
"accession": "DI-03139",
"synonyms": "GPAPP deficiency.; ",
"cross_references": "MeSH; D010009.",
"definition": "A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.",
"acronym": "CDP-PBHM.",
"accession": "DI-03899",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild intellectual disability. ",
"keywords": null
},
{
"identifier": "Chondrosarcoma.",
"acronym": "CHDSA.",
"accession": "DI-02741",
"synonyms": null,
"cross_references": "MeSH; D002813.",
"definition": "A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. ",
"keywords": null
},
{
"identifier": "Chopra-Amiel-Gordon syndrome.",
"acronym": "CAGS.",
"accession": "DI-06214",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, and dysmorphic facial features. Additional features include growth failure, feeding difficulties, non- specific brain abnormalities, ophthalmological abnormalities, gait and balance disturbance, joint hypermobility, and predisposition to recurrent infections. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "CHOPS syndrome.",
"acronym": "CHOPS.",
"accession": "DI-04427",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. ",
"keywords": "KW-0242:Dwarfism.; KW-0550:Obesity.; "
},
{
"identifier": "Chordoma.",
"acronym": "CHDM.",
"accession": "DI-02579",
"synonyms": null,
"cross_references": "MeSH; D002817.",
"definition": "Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. ",
"keywords": null
},
{
"identifier": "Chorea, childhood-onset, with psychomotor retardation.",
"acronym": "COCPMR.",
"accession": "DI-04724",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Chorea, hereditary benign.",
"acronym": "BHC.",
"accession": "DI-01272",
"synonyms": "Hereditary chorea without dementia.; ",
"cross_references": "MeSH; D002819.",
"definition": "A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. ",
"keywords": null
},
{
"identifier": "Choreoacanthocytosis.",
"acronym": "CHAC.",
"accession": "DI-01344",
"synonyms": "Acanthocytosis with neurologic disorder.; Chorea-acanthocytosis.; Levine-Critchley syndrome.; Neuroacanthocytosis.; ",
"cross_references": "MeSH; D054546.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self- mutilation. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction.",
"acronym": "CAHTP.",
"accession": "DI-01345",
"synonyms": "Brain-lung-thyroid syndrome.; Choreoathetosis, hypothyroidism, and neonatal respiratory distress.; ",
"cross_references": "MeSH; D012127.",
"definition": "An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Chorioretinal atrophy, progressive bifocal.",
"acronym": "PBCRA.",
"accession": "DI-06013",
"synonyms": "Progressive bifocal chorioretinal atrophy.; ",
"cross_references": "MeSH; D012164.",
"definition": "An autosomal dominant, progressive chorioretinal dystrophy characterized by atrophic macular and nasal retinal lesions evident soon after birth, nystagmus, myopia, and poor vision. Retinal detachment is observed in some patients. ",
"keywords": null
},
{
"identifier": "Choroidal dystrophy, central areolar, 1.",
"acronym": "CACD1.",
"accession": "DI-05168",
"synonyms": "CACD.; Choroidal dystrophy.; Choroidal dystrophy, central areolar.; ",
"cross_references": "MeSH; D012164.",
"definition": "A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Choroidal dystrophy, central areolar 2.",
"acronym": "CACD2.",
"accession": "DI-01330",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. ",
"keywords": null
},
{
"identifier": "Choroideremia.",
"acronym": "CHM.",
"accession": "DI-01347",
"synonyms": "Progressive tapetochoroidal dystrophy.; TCD.; ",
"cross_references": "MeSH; D015794.",
"definition": "An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. ",
"keywords": null
},
{
"identifier": "Chronic atrial and intestinal dysrhythmia.",
"acronym": "CAID.",
"accession": "DI-04314",
"synonyms": null,
"cross_references": "MeSH; D012804.",
"definition": "A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. ",
"keywords": null
}
]
}