Human Disease List
GET /api/human_diseases/?format=api&offset=3300&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3320&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3280&ordering=-identifier", "results": [ { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Hedera type.", "acronym": "MRXSH.", "accession": "DI-00741", "synonyms": "MRXE.; ", "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. MRXSH patients manifest mild to moderate intellectual disability associated with epilepsy, delays in motor milestones and speech acquisition in infancy. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type.", "acronym": "MRXSHD.", "accession": "DI-05781", "synonyms": null, "cross_references": "MeSH; D038901.", "definition": "An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type.", "acronym": "MRXSG.", "accession": "DI-06831", "synonyms": "Gustavson syndrome.; Intellectual developmental disorder with optic atrophy, deafness, and seizures.; Mental retardation with optic atrophy, deafness, and seizures.; ", "cross_references": "MeSH; D038901.", "definition": "An X-linked disorder characterized by profound intellectual disability, microcephaly, severe structural brain abnormalities, epileptic seizures, severe vision defect, hearing loss, congenital heart defects, psychomotor deficits, and death in infancy or early childhood. ", "keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type.", "acronym": "MRXSCJ.", "accession": "DI-00718", "synonyms": "MRXSJ.; ", "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. MRXSCJ patients manifest intellectual disability associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Christianson type.", "acronym": "MRXSCH.", "accession": "DI-01965", "synonyms": "MRXS-Christianson.; X-linked Angelman-like syndrome.; ", "cross_references": "MeSH; D038901.", "definition": "A syndrome characterized by profound intellectual disability, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Cabezas type.", "acronym": "MRXSC.", "accession": "DI-01309", "synonyms": "Cabezas syndrome.; Intellectual deficit, X-linked, Cabezas type.; MRSS.; MRXHF2.; MRXS15.; ", "cross_references": "MeSH; D038901.", "definition": "A syndromic form of X-linked intellectual disability characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span. ", "keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Billuart type.", "acronym": "MRXSBL.", "accession": "DI-00719", "synonyms": "MRX60.; ", "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. MRXSBL patients manifest intellectual disability associated with cerebellar hypoplasia and distinctive facial dysmorphism. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Bain type.", "acronym": "MRXSB.", "accession": "DI-04850", "synonyms": null, "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. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic, Armfield type.", "acronym": "MRXSA.", "accession": "DI-05903", "synonyms": null, "cross_references": "MeSH; D038901.", "definition": "An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic 37.", "acronym": "MRXS37.", "accession": "DI-06875", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "A syndromic neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral abnormalities, hypotonia, congenital anomalies, and facial dysmorphism. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic 35.", "acronym": "MRXS35.", "accession": "DI-05030", "synonyms": null, "cross_references": "MeSH; D038901.", "definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic 34.", "acronym": "MRXS34.", "accession": "DI-04618", "synonyms": "MRXSML.; ", "cross_references": "MeSH; D038901.", "definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic 33.", "acronym": "MRXS33.", "accession": "DI-04617", "synonyms": null, "cross_references": "MeSH; D038901.", "definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic 32.", "acronym": "MRXS32.", "accession": "DI-03627", "synonyms": null, "cross_references": "MeSH; D038901.", "definition": "A syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked, syndromic 28.", "acronym": "MRXS28.", "accession": "DI-00053", "synonyms": "Agenesis of the corpus callosum with impaired intellectual development, ocular coloboma and micrognathia.; ", "cross_references": "MeSH; D061085.", "definition": "An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined 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 14.", "acronym": "MRXS14.", "accession": "DI-02460", "synonyms": null, "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. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. ", "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 99, syndromic, female-restricted.", "acronym": "MRXS99F.", "accession": "DI-04666", "synonyms": null, "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. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Intellectual developmental disorder, X-linked 99.", "acronym": "XLID99.", "accession": "DI-04101", "synonyms": "MRX99.; ", "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 98.", "acronym": "XLID98.", "accession": "DI-03949", "synonyms": "MRX98.; ", "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. XLID98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control. ", "keywords": "KW-0991:Intellectual disability.; " } ] }