{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5740&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5700&ordering=synonyms","results":[{"identifier":"Inflammatory demyelinating polyneuropathy.","acronym":"IDP.","accession":"DI-01824","synonyms":null,"cross_references":"MedGen; C1841700.","definition":"Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. ","keywords":null},{"identifier":"Inflammatory poikiloderma with hair abnormalities and acral keratoses.","acronym":"IPHAK.","accession":"DI-06592","synonyms":null,"cross_references":"MeSH; D012871.","definition":"An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses. ","keywords":null},{"identifier":"Inflammatory skin and bowel disease, neonatal, 1.","acronym":"NISBD1.","accession":"DI-03306","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ","keywords":null},{"identifier":"Inflammatory skin and bowel disease, neonatal, 2.","acronym":"NISBD2.","accession":"DI-04271","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ","keywords":null},{"identifier":"Inosine triphosphate pyrophosphohydrolase deficiency.","acronym":"ITPAD.","accession":"DI-01825","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. ","keywords":null},{"identifier":"Insulin-resistant diabetes mellitus with acanthosis nigricans type A.","acronym":"IRAN type A.","accession":"DI-01828","synonyms":null,"cross_references":"MedGen; C0342278.","definition":"Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor. ","keywords":null},{"identifier":"Intellectual developmental disorder and retinitis pigmentosa.","acronym":"IDDRP.","accession":"DI-05391","synonyms":null,"cross_references":"MeSH; D012174.","definition":"An autosomal recessive disease characterized by mild to moderate intellectual disability, retinitis pigmentosa, and attention deficit- hyperactivity disorder observed in some patients. ","keywords":"KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.","acronym":"IDDABS.","accession":"DI-05504","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with autism and dysmorphic facies.","acronym":"IDDADF.","accession":"DI-06496","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by moderate to severe intellectual disability with autistic features, myopathy, and facial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Atrial septal defect 4.","acronym":"ASD4.","accession":"DI-00152","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Atrial septal defect 2.","acronym":"ASD2.","accession":"DI-00150","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non- cardiac abnormalities. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Intellectual developmental disorder with autistic features and language delay, with or without seizures.","acronym":"IDDALDS.","accession":"DI-05852","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Intellectual developmental disorder with cardiac defects and dysmorphic facies.","acronym":"IDDCDF.","accession":"DI-05469","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.","acronym":"IDDFBA.","accession":"DI-05311","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant developmental disorder with variable manifestations and onset in infancy or first years of life. Clinical features include intellectual disability, speech delay, hyperkinetic disorder, hyperactivity, seizures, pre- and postnatal growth retardation, microcephaly, and facial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with dysmorphic facies and ptosis.","acronym":"IDDDFP.","accession":"DI-04946","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.","acronym":"IDDFSDA.","accession":"DI-04997","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies.","acronym":"IDDEBF.","accession":"DI-05919","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder that manifests in early infancy with infantile spasms and developmental delay. Clinical features include severely impaired intellectual development, epilepsy, autism, hyperactivity and other behavioral problems, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with hypertelorism and distinctive facies.","acronym":"IDDHDF.","accession":"DI-05352","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with hypotonia and behavioral abnormalities.","acronym":"IDDHBA.","accession":"DI-05741","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies.","acronym":"IDDHISD.","accession":"DI-06250","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, ophthalmologic abnormalities, and non-specific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems. ","keywords":"KW-0991:Intellectual disability.; "}]}