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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5760&ordering=synonyms",
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{
"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 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 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 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": "Atrial fibrillation, familial, 9.",
"acronym": "ATFB9.",
"accession": "DI-03121",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"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 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": "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, 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 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 with or without epilepsy or cerebellar ataxia.",
"acronym": "IDDECA.",
"accession": "DI-05291",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with or without peripheral neuropathy.",
"acronym": "IDDPN.",
"accession": "DI-06400",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay appearing in infancy or early childhood, intellectual disability, and progressive sensorimotor neuropathy with associated distal weakness. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Additional features may include dysarthria and subtle facial dysmorpism. ",
"keywords": "KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with paroxysmal dyskinesia or seizures.",
"acronym": "IDDPADS.",
"accession": "DI-06007",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early- onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with poor growth and with or without seizures or ataxia.",
"acronym": "IDPOGSA.",
"accession": "DI-05788",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with seizures and language delay.",
"acronym": "IDDSELD.",
"accession": "DI-05906",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with severe speech and ambulation defects.",
"acronym": "IDDSSAD.",
"accession": "DI-05593",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with short stature and behavioral abnormalities.",
"acronym": "IDDSSBA.",
"accession": "DI-05712",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with short stature and variable skeletal anomalies.",
"acronym": "IDDSSA.",
"accession": "DI-05577",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by severe intellectual disability, speech and language impairment, developmental delay, and cardiac, thyroid and skeletal abnormalities. Skeletal features include short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with short stature, facial anomalies, and speech defects.",
"acronym": "IDDSFAS.",
"accession": "DI-05547",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with speech delay and axonal peripheral neuropathy.",
"acronym": "IDDSAPN.",
"accession": "DI-05972",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder. ",
"keywords": "KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
}
]
}