{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5340&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5300&ordering=-identifier","results":[{"identifier":"Congenital myopathy 10A, severe variant.","acronym":"CMYP10A.","accession":"DI-03358","synonyms":"EMARDD.; Myopathy, early-onset, areflexia, respiratory distress, and dysphagia.; ","cross_references":"MeSH; D009135.","definition":"An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases. ","keywords":null},{"identifier":"Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.","acronym":"CLOVE.","accession":"DI-03487","synonyms":"CLOVES syndrome.; CLOVE syndrome.; Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities.; ","cross_references":"MeSH; D009506.","definition":"A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth. ","keywords":null},{"identifier":"Congenital lactase deficiency.","acronym":"COLACD.","accession":"DI-01406","synonyms":"Disaccharide intolerance II.; Hereditary alactasia.; ","cross_references":"MedGen; C0268179.","definition":"Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down- regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT. ","keywords":null},{"identifier":"Congenital insensitivity to pain with anhidrosis.","acronym":"CIPA.","accession":"DI-01405","synonyms":"Familial dysautonomia, type II.; Hereditary sensory and autonomic neuropathy IV.; HSAN4.; HSAN IV.; Neuropathy, congenital sensory, with anhidrosis.; ","cross_references":"MedGen; C0020074.","definition":"Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self- mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II. ","keywords":null},{"identifier":"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.","acronym":"CHEDDA.","accession":"DI-05610","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.","acronym":"CHILD.","accession":"DI-00357","synonyms":null,"cross_references":"MeSH; D017880.","definition":"An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Congenital heart defects, multiple types, 9.","acronym":"CHTD9.","accession":"DI-06632","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 8, with or without heterotaxy.","acronym":"CHTD8.","accession":"DI-06292","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common CHTD8 features include double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies. Vascular anomalies include dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Congenital heart defects, multiple types, 7.","acronym":"CHTD7.","accession":"DI-05764","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 6.","acronym":"CHTD6.","accession":"DI-03082","synonyms":"DTGA3.; Transposition of the great arteries, dextro-looped 3.; ","cross_references":"MeSH; D006330.","definition":"An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 5.","acronym":"CHTD5.","accession":"DI-05221","synonyms":null,"cross_references":"MeSH; D006330.","definition":"A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 4.","acronym":"CHTD4.","accession":"DI-04085","synonyms":null,"cross_references":"MeSH; D006330.","definition":"A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 2.","acronym":"CHTD2.","accession":"DI-02853","synonyms":"Congenital heart defects non-syndromic 2.; ","cross_references":"MeSH; D006330.","definition":"A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 1, X-linked.","acronym":"CHTD1.","accession":"DI-03598","synonyms":"X-linked congenital heart defects nonsyndromic 1.; X-linked congenital heart disease nonsyndromic 1.; ","cross_references":"MeSH; D006330.","definition":"A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ","keywords":null},{"identifier":"Congenital heart defects, hamartomas of tongue, and polysyndactyly.","acronym":"CHDTHP.","accession":"DI-04320","synonyms":null,"cross_references":"MeSH; D013576.","definition":"A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. ","keywords":null},{"identifier":"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.","acronym":"CHDFIDD.","accession":"DI-04952","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Congenital heart defects and skeletal malformations syndrome.","acronym":"CHDSKM.","accession":"DI-05064","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. ","keywords":null},{"identifier":"Congenital heart defects and ectodermal dysplasia.","acronym":"CHDED.","accession":"DI-04953","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Congenital glucose/galactose malabsorption.","acronym":"GGM.","accession":"DI-01402","synonyms":null,"cross_references":"MedGen; C0268186.","definition":"Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. ","keywords":null},{"identifier":"Congenital erythropoietic porphyria.","acronym":"CEP.","accession":"DI-01401","synonyms":"Gunther disease.; ","cross_references":"MedGen; C2718078.","definition":"Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. ","keywords":null}]}