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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3960&ordering=-synonyms",
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"results": [
{
"identifier": "Intellectual developmental disorder, X-linked 21.",
"acronym": "XLID21.",
"accession": "DI-00726",
"synonyms": "MRX21.; MRX34.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 1.",
"acronym": "XLID1.",
"accession": "DI-02789",
"synonyms": "MRX1.; MRX18.; MRX78.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 19.",
"acronym": "XLID19.",
"accession": "DI-03127",
"synonyms": "MRX19.; MRX31.; ",
"cross_references": "MeSH; D038901.",
"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, X-linked, syndromic 13.",
"acronym": "MRXS13.",
"accession": "DI-00722",
"synonyms": "MRX16.; MRX79.; MRXPPM.; PPMX.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest intellectual disability associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 12.",
"acronym": "XLID12.",
"accession": "DI-04511",
"synonyms": "MRX12.; MRX35.; ",
"cross_references": "MeSH; D038901.",
"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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 109.",
"acronym": "XLID109.",
"accession": "DI-01629",
"synonyms": "MRX109.; ",
"cross_references": "MeSH; D038901.",
"definition": "A form of mild to moderate intellectual disability associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. 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, X-linked 107.",
"acronym": "XLID107.",
"accession": "DI-05198",
"synonyms": "MRX107.; ",
"cross_references": "MeSH; D038901.",
"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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 106.",
"acronym": "XLID106.",
"accession": "DI-05009",
"synonyms": "MRX106.; ",
"cross_references": "MeSH; D038901.",
"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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 105.",
"acronym": "XLID105.",
"accession": "DI-04816",
"synonyms": "MRX105.; ",
"cross_references": "MeSH; D038901.",
"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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 104.",
"acronym": "XLID104.",
"accession": "DI-04815",
"synonyms": "MRX104.; ",
"cross_references": "MeSH; D038901.",
"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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 103.",
"acronym": "XLID103.",
"accession": "DI-04814",
"synonyms": "MRX103.; ",
"cross_references": "MeSH; D038901.",
"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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type.",
"acronym": "MRXSSB.",
"accession": "DI-04512",
"synonyms": "MRX102.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by mild to severe intellectual disability, hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Additionally, patients manifest variable non-neurologic features such as joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 101.",
"acronym": "XLID101.",
"accession": "DI-04186",
"synonyms": "MRX101.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 100.",
"acronym": "XLID100.",
"accession": "DI-04156",
"synonyms": "MRX100.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypermethioninemia due to adenosine kinase deficiency.",
"acronym": "HMAKD.",
"accession": "DI-03295",
"synonyms": "MRT8.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. ",
"keywords": null
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 16.",
"acronym": "GPIBD16.",
"accession": "DI-05164",
"synonyms": "MRT62.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with microcephaly and gray sclerae.",
"acronym": "NEDMIGS.",
"accession": "DI-04776",
"synonyms": "MRT55.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spastic paraplegia and microcephaly.",
"acronym": "NEDSPM.",
"accession": "DI-04363",
"synonyms": "MRT49.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome characterized by severe psychomotor developmental delay, dysarthria, walking difficulties, moderately to severely impaired intellectual development, poor or absent speech, and progressive microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity.",
"acronym": "NEDFCF.",
"accession": "DI-04004",
"synonyms": "MRT40.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by impaired intellectual development, microcephaly, delayed psychomotor development, pyramidal signs, thin corpus callosum, and foot deformity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies.",
"acronym": "NEDBGF.",
"accession": "DI-03799",
"synonyms": "MRT36.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and speech delay apparent from infancy or early childhood. Most patients have dysmorphic facial features, and white matter abnormalities on brain imaging. More variable features may include teeth anomalies, distal joint contractures, spasticity, peripheral neuropathy, and behavioral problems. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}