{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3380&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3340&ordering=identifier","results":[{"identifier":"Intellectual developmental disorder with short stature and behavioral abnormalities.","acronym":"IDDSSBA.","accession":"DI-05712","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with short stature and variable skeletal anomalies.","acronym":"IDDSSA.","accession":"DI-05577","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by severe intellectual disability, speech and language impairment, developmental delay, and cardiac, thyroid and skeletal abnormalities. Skeletal features include short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with short stature, facial anomalies, and speech defects.","acronym":"IDDSFAS.","accession":"DI-05547","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with speech delay and axonal peripheral neuropathy.","acronym":"IDDSAPN.","accession":"DI-05972","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder. ","keywords":"KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with speech delay and dysmorphic facies.","acronym":"IDDSDF.","accession":"DI-05618","synonyms":"Coffin-Siris syndrome 10.; CSS10.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with speech delay, autism and dysmorphic facies.","acronym":"IDDSADF.","accession":"DI-05707","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by mild to severe intellectual disability, developmental delay, delayed or absent speech, hypotonia, short stature, autistic features, and highly variable dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities.","acronym":"IDDSFTA.","accession":"DI-05315","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies. ","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 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":"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 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 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 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 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 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 108.","acronym":"MRX108.","accession":"DI-05522","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. 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 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 110.","acronym":"XLID110.","accession":"DI-06576","synonyms":null,"cross_references":"MeSH; D065886.","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 111.","acronym":"XLID111.","accession":"DI-06670","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A neurodevelopmental disorder characterized by moderate to severe intellectual disability, delayed development, speech delay, and neuropsychiatric and behavioral problems such as anxiety, attention deficit-hyperactivity disorder and autism spectrum disorder. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, X-linked 112.","acronym":"XLID112.","accession":"DI-06714","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A neurodevelopmental disorder characterized by developmental delay, impaired intellectual development, language and motor delay, autism or autistic traits, and variable dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; KW-1269:Autism.; "}]}