{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2680&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2640&ordering=-synonyms","results":[{"identifier":"Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.","acronym":"CAKUTHED.","accession":"DI-05075","synonyms":null,"cross_references":"MeSH; D014564.","definition":"An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay. ","keywords":null},{"identifier":"Leri-Weill dyschondrosteosis.","acronym":"LWD.","accession":"DI-01891","synonyms":null,"cross_references":"MedGen; CN031459.","definition":"Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. ","keywords":null},{"identifier":"Acromelic frontonasal dysostosis.","acronym":"AFND.","accession":"DI-04203","synonyms":null,"cross_references":"MeSH; D000013.","definition":"A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. ","keywords":null},{"identifier":"Hyperinsulinemic hypoglycemia, familial, 3.","acronym":"HHF3.","accession":"DI-01581","synonyms":null,"cross_references":"MeSH; D007003.","definition":"A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF3 clinical features include loss of consciousness due to hypoglycemia, hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF3 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Hemolytic anemia due to adenylate kinase deficiency.","acronym":"HAAKD.","accession":"DI-01702","synonyms":null,"cross_references":"MeSH; D000745.","definition":"A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Hyperinsulinemic hypoglycemia, familial, 5.","acronym":"HHF5.","accession":"DI-01583","synonyms":null,"cross_references":"MeSH; D007003.","definition":"A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF5 clinical features include loss of consciousness due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency.","acronym":"HAGGSD.","accession":"DI-01703","synonyms":null,"cross_references":"MeSH; D000743.","definition":"A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Hemolytic anemia due to glutathione reductase deficiency.","acronym":"HAGRD.","accession":"DI-05704","synonyms":null,"cross_references":"MeSH; D000745.","definition":"An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Congenital bilateral aplasia of the vas deferens, X-linked.","acronym":"CBAVDX.","accession":"DI-04817","synonyms":null,"cross_references":"MeSH; D052801.","definition":"A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility. ","keywords":null},{"identifier":"Hemolytic anemia, congenital, X-linked.","acronym":"HACXL.","accession":"DI-05302","synonyms":null,"cross_references":"MeSH; D000745.","definition":"An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency.","acronym":"HA-GPID.","accession":"DI-01729","synonyms":null,"cross_references":"MeSH; D000746.","definition":"A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Brachydactyly B2.","acronym":"BDB2.","accession":"DI-02844","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. ","keywords":null},{"identifier":"Hydrocephalus, congenital, 5.","acronym":"HYC5.","accession":"DI-06606","synonyms":null,"cross_references":"MeSH; D006849.","definition":"A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities. ","keywords":null},{"identifier":"Histidinemia.","acronym":"HISTID.","accession":"DI-01750","synonyms":null,"cross_references":"MedGen; C0220992.","definition":"Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. ","keywords":null},{"identifier":"Congenital bile acid synthesis defect 3.","acronym":"CBAS3.","accession":"DI-00331","synonyms":null,"cross_references":"MeSH; D002780.","definition":"A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. ","keywords":"KW-0988:Intrahepatic cholestasis.; "},{"identifier":"Hypophosphatasia, childhood.","acronym":"HPPC.","accession":"DI-03098","synonyms":null,"cross_references":"MeSH; D007014.","definition":"A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal dominant 22.","acronym":"MRD22.","accession":"DI-03970","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low- set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities.","acronym":"IDDSFTA.","accession":"DI-05315","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hemolytic uremic syndrome, atypical, 7.","acronym":"AHUS7.","accession":"DI-03798","synonyms":null,"cross_references":"MeSH; D065766.","definition":"An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. ","keywords":"KW-1068:Hemolytic uremic syndrome.; "},{"identifier":"Retinitis pigmentosa 82 with or without situs inversus.","acronym":"RP82.","accession":"DI-03887","synonyms":null,"cross_references":"MeSH; D012857.","definition":"An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition. ","keywords":"KW-1186:Ciliopathy.; "}]}