{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2820&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2780&ordering=synonyms","results":[{"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.; "},{"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, 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, Shashi type.","acronym":"MRXSSH.","accession":"DI-04582","synonyms":"MRXS11.; SMRXS.; ","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. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Prieto syndrome.","acronym":"PRS.","accession":"DI-06804","synonyms":"MRXS2.; ","cross_references":"MeSH; D038901.","definition":"An X-linked recessive disorder characterized by impaired intellectual development, developmental delay, autism spectrum disorder, variable epilepsy, craniofacial dysmorphism, and structural brain abnormalities including polymicrogyria and cerebral atrophy. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"MEHMO syndrome.","acronym":"MEHMO.","accession":"DI-05173","synonyms":"MRXS20.; MRXS25.; MRXSBRK.; ","cross_references":"MeSH; D038901.","definition":"An X-linked recessive syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. ","keywords":"KW-0550:Obesity.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, Nascimento-type.","acronym":"MRXSN.","accession":"DI-03285","synonyms":"MRXS30.; ","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. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Basilicata-Akhtar syndrome.","acronym":"MRXSBA.","accession":"DI-05649","synonyms":"MRXS36.; ","cross_references":"MeSH; D038901.","definition":"An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type.","acronym":"WTS.","accession":"DI-03554","synonyms":"MRXS6.; MRXSWT.; Wilson-Turner syndrome.; ","cross_references":"MeSH; D038901.","definition":"A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. ","keywords":"KW-0550:Obesity.; 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, 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 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":"Van Esch-O'Driscoll syndrome.","acronym":"VEODS.","accession":"DI-05626","synonyms":"MRXSVEOD.; ","cross_references":"MeSH; D008607.","definition":"An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Congenital myopathy 8.","acronym":"CMYP8.","accession":"DI-05700","synonyms":"MSCD.; Multiple structured core disease.; MYOCOZ.; Myopathy, congenital, with structured cores and Z-line abnormalities.; ","cross_references":"MeSH; D009135.","definition":"An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines. ","keywords":null},{"identifier":"Oculopharyngeal muscular dystrophy 1.","acronym":"OPMD1.","accession":"DI-00881","synonyms":"Mscular dystrophy, oculopharyngeal.; ","cross_references":"MeSH; D039141.","definition":"An autosomal dominant, late-onset, slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. ","keywords":null},{"identifier":"Congenital myopathy 7B, myosin storage, autosomal recessive.","acronym":"CMYP7B.","accession":"DI-04466","synonyms":"MSMB.; Myopathy, hyaline body, autosomal recessive.; Myopathy, myosin storage, autosomal recessive.; ","cross_references":"MeSH; D009135.","definition":"A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. ","keywords":null},{"identifier":"Smooth muscle dysfunction syndrome.","acronym":"SMDYS.","accession":"DI-03109","synonyms":"MSMDS.; Multisystemic smooth muscle dysfunction syndrome.; Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy.; ","cross_references":"MeSH; D015878.","definition":"An autosomal dominant syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. ","keywords":null},{"identifier":"Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2.","acronym":"IBMPFD2.","accession":"DI-03892","synonyms":"MSP2.; Multisystem proteinopathy 2.; ","cross_references":"MeSH; D057180.","definition":"An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ","keywords":null},{"identifier":"Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3.","acronym":"IBMPFD3.","accession":"DI-03882","synonyms":"MSP3.; Multisystem proteinopathy 3.; ","cross_references":"MeSH; D057180.","definition":"An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ","keywords":null},{"identifier":"Myopathy, distal, with rimmed vacuoles.","acronym":"DMRV.","accession":"DI-04886","synonyms":"MSP4.; Multisystem proteinopathy 4.; ","cross_references":"MeSH; D009135.","definition":"An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles. ","keywords":null}]}