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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4320&ordering=synonyms",
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{
"identifier": "Intellectual developmental disorder, autosomal dominant 53.",
"acronym": "MRD53.",
"accession": "DI-05154",
"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": "Intellectual developmental disorder, autosomal dominant 52.",
"acronym": "MRD52.",
"accession": "DI-05153",
"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, 71.",
"acronym": "DFNA71.",
"accession": "DI-05058",
"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. DFNA71 is characterized by bilateral mild to moderate hearing loss before age 20 years, which gradually progresses to severe to profound hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 51.",
"acronym": "MRD51.",
"accession": "DI-05152",
"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": "Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities.",
"acronym": "MRD50.",
"accession": "DI-05151",
"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, 70.",
"acronym": "DFNA70.",
"accession": "DI-04728",
"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. DFNA70 is characterized by slowly progressive, postlingual hearing impairment. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 5.",
"acronym": "MRD5.",
"accession": "DI-00713",
"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. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe intellectual disability, and severe language impairment. Epilepsy and autism can be present in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 48.",
"acronym": "MRD48.",
"accession": "DI-05131",
"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. MRD48 patients manifest global developmental delay and moderate to severe intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 7.",
"acronym": "DFNA7.",
"accession": "DI-05774",
"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. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 47.",
"acronym": "MRD47.",
"accession": "DI-05063",
"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. MRD47 patients manifest developmental delay and mild to moderate intellectual disability, usually with delayed speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 46.",
"acronym": "MRD46.",
"accession": "DI-05062",
"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. MRD46 patients manifest developmental delay and mild to moderate intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 68.",
"acronym": "DFNA68.",
"accession": "DI-04600",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss with postlingual onset. 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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 24.",
"acronym": "CMH24.",
"accession": "DI-04407",
"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": "Intellectual developmental disorder, autosomal dominant 45.",
"acronym": "MRD45.",
"accession": "DI-05061",
"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. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 44, with microcephaly.",
"acronym": "MRD44.",
"accession": "DI-04798",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 67.",
"acronym": "DFNA67.",
"accession": "DI-04416",
"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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 43.",
"acronym": "MRD43.",
"accession": "DI-04747",
"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. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 42.",
"acronym": "MRD42.",
"accession": "DI-04731",
"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. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 66.",
"acronym": "DFNA66.",
"accession": "DI-04729",
"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. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 41.",
"acronym": "MRD41.",
"accession": "DI-04716",
"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. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}