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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3320&ordering=identifier",
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{
"identifier": "Intellectual developmental disorder, autosomal recessive 56.",
"acronym": "MRT56.",
"accession": "DI-04823",
"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 57.",
"acronym": "MRT57.",
"accession": "DI-04875",
"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. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 58.",
"acronym": "MRT58.",
"accession": "DI-04902",
"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. MRT58 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 59.",
"acronym": "MRT59.",
"accession": "DI-04942",
"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 6.",
"acronym": "MRT6.",
"accession": "DI-01245",
"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. MRT6 patients display mild to severe intellectual disability and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 60.",
"acronym": "MRT60.",
"accession": "DI-04989",
"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. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 61.",
"acronym": "MRT61.",
"accession": "DI-05133",
"synonyms": "Alwadei syndrome.; ",
"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. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 63.",
"acronym": "MRT63.",
"accession": "DI-05317",
"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. MRT63 patients manifest global developmental delay, severe intellectual disability, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 64.",
"acronym": "MRT64.",
"accession": "DI-05318",
"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. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 65.",
"acronym": "MRT65.",
"accession": "DI-05327",
"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. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 66.",
"acronym": "MRT66.",
"accession": "DI-05434",
"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. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 67.",
"acronym": "MRT67.",
"accession": "DI-05459",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. Some MRT67 patients manifest seizures and sensorineural hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 68.",
"acronym": "MRT68.",
"accession": "DI-05452",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 69.",
"acronym": "MRT69.",
"accession": "DI-05523",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 7.",
"acronym": "MRT7.",
"accession": "DI-00717",
"synonyms": "MRT22.; ",
"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 70.",
"acronym": "MRT70.",
"accession": "DI-05524",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. MRT70 patients manifest impaired intellectual development, mild facial dysmorphism, febrile seizures, and behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 71.",
"acronym": "MRT71.",
"accession": "DI-05617",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 72.",
"acronym": "MRT72.",
"accession": "DI-05705",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 73.",
"acronym": "MRT73.",
"accession": "DI-06320",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A 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. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 74.",
"acronym": "MRT74.",
"accession": "DI-04855",
"synonyms": "SOTOS3.; Sotos syndrome 3.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}