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"count": 6723,
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{
"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": "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 63, with macrocephaly.",
"acronym": "MRD63.",
"accession": "DI-05777",
"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. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 64.",
"acronym": "MRD64.",
"accession": "DI-06050",
"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. MRD64 is characterized by mildly to severely impaired intellectual development, speech delay, and autism spectrum disorder in most patients. Additional variable features may include motor delay, attention deficit-hyperactivity disorder, and non-specific dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 65.",
"acronym": "MRD65.",
"accession": "DI-06105",
"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. MRD65 is characterized by delayed motor and speech acquisition, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Additional variable features include feeding difficulties, hypotonia, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 66.",
"acronym": "MRD66.",
"accession": "DI-06443",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by mild to moderate global development delay, impaired intellectual development, and speech delay. Additional common symptoms include autism, seizures, and distal limb abnormalities. Disease severity is highly variable. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 67.",
"acronym": "MRD67.",
"accession": "DI-06444",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global development delay and impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, and language and sleeping difficulties. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 68.",
"acronym": "MRD68.",
"accession": "DI-06462",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 69.",
"acronym": "MRD69.",
"accession": "DI-06461",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by developmental delay and variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence. ",
"keywords": "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": "Intellectual developmental disorder, autosomal dominant 7.",
"acronym": "MRD7.",
"accession": "DI-03186",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disease characterized by primary microcephaly, severe intellectual disability without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Intellectual disability is 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 70.",
"acronym": "MRD70.",
"accession": "DI-06565",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities.",
"acronym": "MRD71.",
"accession": "DI-06659",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, speech delay, and impaired intellectual development. Most patients manifest neurobehavioral features including autism spectrum disorder and attention- deficit/hyperactivity disorder. Other frequent features include hypersensitivity to sensory stimuli and sleep problems. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 72.",
"acronym": "MRD72.",
"accession": "DI-06715",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, predominant speech delay, autistic or attention deficit-hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 73.",
"acronym": "MRD73.",
"accession": "DI-06716",
"synonyms": "T4ND.; TAF4-related NDD.; TAF4-related neurodevelopmental disorder.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by intellectual disability ranging from mild to severe, developmental delay, speech delay, behavioral abnormalities, and non-specific dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 74.",
"acronym": "MRD74.",
"accession": "DI-06839",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, including delay of motor skills and speech delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 1.",
"acronym": "MRT1.",
"accession": "DI-00714",
"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 recessive 12.",
"acronym": "MRT12.",
"accession": "DI-03255",
"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 recessive 13.",
"acronym": "MRT13.",
"accession": "DI-02585",
"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. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 14.",
"acronym": "MRT14.",
"accession": "DI-03192",
"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.; "
}
]
}