{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1460&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1420&ordering=-synonyms","results":[{"identifier":"Congenital myopathy 4B, autosomal recessive.","acronym":"CMYP4B.","accession":"DI-02032","synonyms":null,"cross_references":"MeSH; D017696.","definition":"A muscular disorder characterized by muscle weakness appearing in infancy or early childhood. Most affected individuals show congenital contractures, delayed motor development, hypotonia, respiratory insufficiency, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Skeletal muscle biopsy shows variable histologic findings, including nemaline rods, type 1 fiber predomination, and centralized nuclei. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Acromesomelic dysplasia 4.","acronym":"AMD4.","accession":"DI-06276","synonyms":null,"cross_references":"MeSH; D004392.","definition":"A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Bulimia nervosa 2.","acronym":"BULN2.","accession":"DI-04567","synonyms":null,"cross_references":"MeSH; D052018.","definition":"A psychiatric disorder characterized by eating an unusually large amount of food in a short period of time, followed by inappropriate acts (purging) to avert weight gain. Compensatory behavior includes self-induced vomiting, laxative abuse, and excessive exercise. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 109.","acronym":"DEE109.","accession":"DI-06557","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE109 is an autosomal dominant form characterized by the onset of various types of seizures in the first months or years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Buratti-Harel syndrome.","acronym":"BURHAS.","accession":"DI-06101","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hereditary pyropoikilocytosis.","acronym":"HPP.","accession":"DI-01737","synonyms":null,"cross_references":"MedGen; C0520739.","definition":"Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. ","keywords":null},{"identifier":"Arrhythmogenic right ventricular dysplasia, familial, 14.","acronym":"ARVD14.","accession":"DI-05863","synonyms":null,"cross_references":"MeSH; D019571.","definition":"A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Developmental and epileptic encephalopathy 110.","acronym":"DEE110.","accession":"DI-06558","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Congenital myopathy with excess of muscle spindles.","acronym":"CMEMS.","accession":"DI-01411","synonyms":null,"cross_references":"MedGen; C1968782.","definition":"Variant of Costello syndrome. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 107.","acronym":"DFNB107.","accession":"DI-05057","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Congenital short bowel syndrome, X-linked.","acronym":"CSBSX.","accession":"DI-03734","synonyms":null,"cross_references":"MeSH; D012778.","definition":"A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. ","keywords":null},{"identifier":"Congenital smooth muscle hamartoma, with or without hemihypertrophy.","acronym":"CSMH.","accession":"DI-06743","synonyms":null,"cross_references":"MeSH; D006222.","definition":"A benign skin lesion that usually presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Hair follicles are normal in number and hyperkeratosis, acanthosis and hyperpigmentation of the basal cell layer can sometimes be seen. Rarely, CSMH is associated with hemihypertrophy. ","keywords":null},{"identifier":"Ectodermal dysplasia/short stature syndrome.","acronym":"ECTDS.","accession":"DI-04239","synonyms":null,"cross_references":"MeSH; D004476.","definition":"An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; "},{"identifier":"Deafness, autosomal recessive, 113.","acronym":"DFNB113.","accession":"DI-05550","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Alpha-1-antitrypsin deficiency.","acronym":"A1ATD.","accession":"DI-02928","synonyms":null,"cross_references":"MeSH; D019896.","definition":"A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. ","keywords":null},{"identifier":"Familial platelet disorder with associated myeloid malignancy.","acronym":"FPDMM.","accession":"DI-01597","synonyms":null,"cross_references":"MedGen; C1832388.","definition":"Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. ","keywords":null},{"identifier":"Cornelia de Lange syndrome 5.","acronym":"CDLS5.","accession":"DI-03541","synonyms":null,"cross_references":"MeSH; D003635.","definition":"A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.","acronym":"CPSFS1B.","accession":"DI-05594","synonyms":null,"cross_references":"MeSH; D001176.","definition":"An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 116.","acronym":"DFNB116.","accession":"DI-05964","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by slowly progressive, moderate to profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 64.","acronym":"MRD64.","accession":"DI-06050","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant 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. MRD64 is characterized by mildly to severely impaired intellectual development, speech delay, and autism spectrum disorder in most patients. Additional variable features may include motor delay, attention deficit-hyperactivity disorder, and non-specific dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "}]}