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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3340&ordering=identifier",
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"results": [
{
"identifier": "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly.",
"acronym": "MRT75.",
"accession": "DI-06393",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood, impaired intellectual development, and behavioral and psychiatric abnormalities. Some patients present seizures and facial dysmorphism. Brain imaging often shows cortical anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 76.",
"acronym": "MRT76.",
"accession": "DI-06445",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, absent speech, seizures, sleep disturbances, and feeding difficulties. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 77.",
"acronym": "MRT77.",
"accession": "DI-06477",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, variably impaired cognitive development, delayed walking, and poor speech in some cases. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 78.",
"acronym": "MRT78.",
"accession": "DI-06604",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by usually mild intellectual disability, microcephaly, and short stature. Additional features may include ocular abnormalities and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 79.",
"acronym": "MRT79.",
"accession": "DI-06682",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, severe intellectual disability, poor or absent speech, ataxia, and postnatal microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly.",
"acronym": "MRT80.",
"accession": "DI-06813",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly to moderately impaired intellectual development, attention deficit-hyperactivity disorder, hypotonia, seizure, poor social skills, and autistic traits. Brain imaging shows fronto- temporal lissencephaly and pachygyria. ",
"keywords": "KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 81.",
"acronym": "MRT81.",
"accession": "DI-06840",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by variable features including mild to severe developmental delay, hypotonia, feeding difficulties, extreme fatigue, and neurobehavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 82.",
"acronym": "MRT82.",
"accession": "DI-06876",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by developmental delay, motor and speech delay, intellectual disability, and behavioral anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, FRA12A type.",
"acronym": "IDDFR12A.",
"accession": "DI-06375",
"synonyms": "Intellectual developmental disorder, autosomal dominant, FRA12A type.; ",
"cross_references": "MeSH; D038901.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development with or without other anomalies, in association with a folate-sensitive chromosomal fragile site at 12q13. Main features are global developmental delay, significant learning disability, epileptic seizures, and behavioral problems. The disorder can be inherited without phenotypic effects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.",
"acronym": "IDDABS.",
"accession": "DI-05504",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with autism and dysmorphic facies.",
"acronym": "IDDADF.",
"accession": "DI-06496",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by moderate to severe intellectual disability with autistic features, myopathy, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder with autism and macrocephaly.",
"acronym": "IDDAM.",
"accession": "DI-03675",
"synonyms": "Autism 18.; AUTS18.; ",
"cross_references": "MeSH; D001321.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Other common features include tall stature, gastrointestinal symptoms, distinct facial features, sleep problems, and attention problems. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Intellectual developmental disorder with autism and speech delay.",
"acronym": "IDDAS.",
"accession": "DI-05442",
"synonyms": "Autism 5.; Autism-related speech delay.; AUTS5.; Phrase speech delay, autism-related.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder with autistic features and language delay, with or without seizures.",
"acronym": "IDDALDS.",
"accession": "DI-05852",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures.",
"acronym": "IDDBCS.",
"accession": "DI-05723",
"synonyms": "NEDMS.; Neurodevelopmental disorder with macrocephaly and with or without seizures.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit-hyperactivity disorder. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with cardiac defects and dysmorphic facies.",
"acronym": "IDDCDF.",
"accession": "DI-05469",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.",
"acronym": "IDDFBA.",
"accession": "DI-05311",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant developmental disorder with variable manifestations and onset in infancy or first years of life. Clinical features include intellectual disability, speech delay, hyperkinetic disorder, hyperactivity, seizures, pre- and postnatal growth retardation, microcephaly, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with dysmorphic facies and ptosis.",
"acronym": "IDDDFP.",
"accession": "DI-04946",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.",
"acronym": "IDDFSDA.",
"accession": "DI-04997",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. ",
"keywords": "KW-0887:Epilepsy.; 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.; "
}
]
}