{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1440&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1400&ordering=identifier","results":[{"identifier":"Congenital myopathy 24.","acronym":"CMYP24.","accession":"DI-04947","synonyms":"NEM11.; Nemaline myopathy 11, autosomal recessive.; ","cross_references":"MeSH; D017696.","definition":"An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Congenital myopathy 2A, typical, autosomal dominant.","acronym":"CMYP2A.","accession":"DI-02034","synonyms":"ACTA1-related nemaline myopathy.; Actin myopathy congenital with cores.; Myopathy, actin, congenital, with excess of thin myofilaments.; NEM3.; Nemaline myopathy 3.; Nemaline myopathy 3 with intranuclear rods.; ","cross_references":"MeSH; D017696.","definition":"A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Congenital myopathy 2B, severe infantile, autosomal recessive.","acronym":"CMYP2B.","accession":"DI-06621","synonyms":null,"cross_references":"MeSH; D020512.","definition":"An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. ","keywords":null},{"identifier":"Congenital myopathy 2C, severe infantile, autosomal dominant.","acronym":"CMYP2C.","accession":"DI-06622","synonyms":null,"cross_references":"MeSH; D020512.","definition":"An autosomal dominant skeletal muscle disorder characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. ","keywords":null},{"identifier":"Congenital myopathy 3 with rigid spine.","acronym":"CMYP3.","accession":"DI-00795","synonyms":"Congenital merosin-positive muscular dystrophy with early spine rigidity.; Congenital muscular dystrophy Eichsfeld type.; Congenital muscular dystrophy merosin-positive with early spine rigidity.; Desmin-related myopathy with Mallory bodies.; MDRS1.; Minicore myopathy severe classic form.; Multicore myopathy severe classic form.; Multiminicore disease severe classic form.; Rigid spine muscular dystrophy 1.; Rigid spine syndrome.; RSMD1.; RSS.; SEPN1-related myopathy.; ","cross_references":"MeSH; D020914.","definition":"An autosomal recessive, slowly progressive muscular disorder apparent from birth or early childhood and characterized by hypotonia, proximal muscle weakness, poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Most patients remain ambulatory. Early ventilatory insufficiency may lead to death by respiratory failure. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in patients with a low BMI. Skeletal muscle biopsy typically shows multiminicores and other abnormal non-specific myopathic findings. ","keywords":"KW-0911:Desmin-related myopathy.; "},{"identifier":"Congenital myopathy 4A, autosomal dominant.","acronym":"CMYP4A.","accession":"DI-01413","synonyms":"CAPM1.; CAP myopathy 1.; CFTD.; CFTDM.; Congenital fiber-type disproportion myopathy.; Myopathy, congenital, with fiber-type disproportion.; NEM1.; Nemaline myopathy 1.; ","cross_references":"MeSH; D020914.","definition":"A muscular disorder characterized by onset of muscle weakness in infancy or childhood. Most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity. Skeletal muscle biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion. ","keywords":null},{"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":"Congenital myopathy 5 with cardiomyopathy.","acronym":"CMYP5.","accession":"DI-01514","synonyms":"Early-onset myopathy with fatal cardiomyopathy.; EOMFC.; Myopathy, early-onset, with fatal cardiomyopathy.; Salih myopathy.; SALMY.; ","cross_references":"MeSH; D009202.","definition":"An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Congenital myopathy 6 with ophthalmoplegia.","acronym":"CMYP6.","accession":"DI-01816","synonyms":"IBM3.; Inclusion body myopathy 3.; Inclusion body myopathy 3, autosomal dominant.; Myopathy, proximal, with ophthalmoplegia.; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.; MYPOP.; Proximal myopathy and ophthalmoplegia.; ","cross_references":"MeSH; D018979.","definition":"A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive. ","keywords":null},{"identifier":"Congenital myopathy 7A, myosin storage, autosomal dominant.","acronym":"CMYP7A.","accession":"DI-02021","synonyms":"Hyaline body myopathy autosomal dominant.; MSMA.; Myopathy, myosin storage, autosomal dominant.; Scapuloperoneal muscular dystrophy.; Scapuloperoneal myopathy MYH7-related.; Scapuloperoneal syndrome, myopathic type.; SPMD.; SPMM.; ","cross_references":"MeSH; D009135.","definition":"A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. ","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":"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":"Congenital myopathy 9A.","acronym":"CMYP9A.","accession":"DI-05793","synonyms":"Myopathy, congenital, with respiratory insufficiency and bone fractures.; MYORIBF.; ","cross_references":"MeSH; D009135.","definition":"An autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy. ","keywords":null},{"identifier":"Congenital myopathy 9B, proximal, with minicore lesions.","acronym":"CMYP9B.","accession":"DI-05794","synonyms":"Myopathy, congenital proximal, with minicore lesions.; MYOPMIL.; ","cross_references":"MeSH; D009135.","definition":"An autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern. ","keywords":null},{"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":"Congenital short bowel syndrome.","acronym":"CSBS.","accession":"DI-03743","synonyms":"Congenital short bowel and malrotation syndrome.; CSBM.; ","cross_references":"MeSH; D012778.","definition":"A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life. ","keywords":null},{"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":"Congenital sucrase-isomaltase deficiency.","acronym":"CSID.","accession":"DI-01419","synonyms":"Disaccharide intolerance I.; ","cross_references":"MedGen; C1283620.","definition":"Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI. ","keywords":null},{"identifier":"Conotruncal heart malformations.","acronym":"CTHM.","accession":"DI-01424","synonyms":"CAFS.; Common arterial trunk.; Conotruncal anomaly face syndrome.; Conotruncal heart defects.; CTHD.; DORV.; Double-outlet right ventricle.; Persistent truncus arteriosus.; PTA.; TAC.; Truncus arteriosus communis.; ","cross_references":"MeSH; D014339.","definition":"A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. ","keywords":null}]}