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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4380&ordering=synonyms",
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"results": [
{
"identifier": "Ataxia and polyneuropathy, adult-onset.",
"acronym": "APAO.",
"accession": "DI-04887",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Intellectual developmental disorder with ocular anomalies and distinctive facial features.",
"acronym": "IDDOF.",
"accession": "DI-06532",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mild intellectual disability, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features including long, upslanting palpebral fissures, bitemporal narrowing of the forehead, arched eyebrows, and epicanthal folds. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 1.",
"acronym": "MRD1.",
"accession": "DI-00710",
"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 with neuropsychiatric features.",
"acronym": "IDDNPF.",
"accession": "DI-05022",
"synonyms": null,
"cross_references": "MeSH; D001523.",
"definition": "An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies.",
"acronym": "IDNADFS.",
"accession": "DI-05672",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 37.",
"acronym": "DFNA37.",
"accession": "DI-05635",
"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. DFNA37 is a slowly progressive, postlingual form. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 14.",
"acronym": "CMH14.",
"accession": "DI-02680",
"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 with muscle tone abnormalities and distal skeletal defects.",
"acronym": "IDDMDS.",
"accession": "DI-06485",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with macrocephaly, seizures, and speech delay.",
"acronym": "IDDMSSD.",
"accession": "DI-05360",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 34, with or without inflammation.",
"acronym": "DFNA34.",
"accession": "DI-05146",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of 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. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 13.",
"acronym": "CMH13.",
"accession": "DI-02553",
"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": "Asthma-related traits 7.",
"acronym": "ASRT7.",
"accession": "DI-02871",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Intellectual developmental disorder with language impairment and with or without autistic features.",
"acronym": "MRLIAF.",
"accession": "DI-02984",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A developmental disorder characterized by mild to moderate intellectual disability, language impairment, and autistic features in some patients. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism.",
"acronym": "IDLDP.",
"accession": "DI-06447",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia with later development of dopa-responsive dystonia or parkinsonism. About half of patients develop various types of seizures. ",
"keywords": "KW-0908:Parkinsonism.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Intellectual developmental disorder with impaired language and dysmorphic facies.",
"acronym": "IDDILF.",
"accession": "DI-05699",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies.",
"acronym": "IDDHISD.",
"accession": "DI-06250",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, ophthalmologic abnormalities, and non-specific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 12.",
"acronym": "CMH12.",
"accession": "DI-00242",
"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 with hypotonia and behavioral abnormalities.",
"acronym": "IDDHBA.",
"accession": "DI-05741",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder with hypertelorism and distinctive facies.",
"acronym": "IDDHDF.",
"accession": "DI-05352",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies.",
"acronym": "IDDEBF.",
"accession": "DI-05919",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder that manifests in early infancy with infantile spasms and developmental delay. Clinical features include severely impaired intellectual development, epilepsy, autism, hyperactivity and other behavioral problems, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}