HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4300&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4260&ordering=synonyms",
"results": [
{
"identifier": "Deafness, autosomal dominant, 79.",
"acronym": "DFNA79.",
"accession": "DI-05958",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic, progressive sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA79 affected females appear to have milder hearing loss than males. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 62.",
"acronym": "MRD62.",
"accession": "DI-05770",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD62 is characterized by mild to moderately impaired intellectual development. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 61.",
"acronym": "MRD61.",
"accession": "DI-05748",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD61 is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder. Additional features are highly variable and may include non-specific dysmorphic features, obstipation, ocular anomalies, and poor overall growth. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 78.",
"acronym": "DFNA78.",
"accession": "DI-05957",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by congenital, profound bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 28.",
"acronym": "CMH28.",
"accession": "DI-06150",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 60, with seizures.",
"acronym": "MRD60.",
"accession": "DI-05662",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay apparent in the first six months of life, followed by onset of seizures between 21 months and 4 years. Disease features include moderate-to-severe intellectual disability, poor speech, delayed walking, and ataxia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures.",
"acronym": "MRD6.",
"accession": "DI-03128",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 77.",
"acronym": "DFNA77.",
"accession": "DI-05859",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by adult onset of bilateral, postlingual, mild-to-severe sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 59.",
"acronym": "MRD59.",
"accession": "DI-05622",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 58.",
"acronym": "MRD58.",
"accession": "DI-05326",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD58 patients show delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 76.",
"acronym": "DFNA76.",
"accession": "DI-05762",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss and variable age at onset. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 57.",
"acronym": "MRD57.",
"accession": "DI-05289",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 56.",
"acronym": "MRD56.",
"accession": "DI-05186",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 73.",
"acronym": "DFNA73.",
"accession": "DI-05089",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic hearing loss characterized by mild to severe bilateral symptoms with variable age of onset from early childhood to the third decade. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 55, with seizures.",
"acronym": "MRD55.",
"accession": "DI-05178",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 54.",
"acronym": "MRD54.",
"accession": "DI-05155",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 72.",
"acronym": "DFNA72.",
"accession": "DI-05059",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 27.",
"acronym": "CMH27.",
"accession": "DI-05290",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early- onset form with features of hypertrophic and dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 26.",
"acronym": "CMH26.",
"accession": "DI-04771",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ataxia-oculomotor apraxia 3.",
"acronym": "AOA3.",
"accession": "DI-03724",
"synonyms": null,
"cross_references": "MeSH; D002524.",
"definition": "An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}