{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5620&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5580&ordering=-synonyms","results":[{"identifier":"Ellis-van Creveld syndrome.","acronym":"EVC.","accession":"DI-00449","synonyms":"Chondroectodermal dysplasia.; Mesoectodermal dysplasia.; ","cross_references":"MeSH; D004613.","definition":"An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "},{"identifier":"Otospondylomegaepiphyseal dysplasia, autosomal recessive.","acronym":"OSMEDB.","accession":"DI-01254","synonyms":"Chondrodystrophy with sensorineural deafness.; Insley-Astley syndrome.; Nance-Insley syndrome.; Nance-Sweeney chondrodysplasia.; OSMED.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. ","keywords":null},{"identifier":"Greenberg dysplasia.","acronym":"GRBGD.","accession":"DI-01761","synonyms":"Chondrodystrophy, hydropic and prenatally lethal type.; HEM skeletal dysplasia.; Hydrops-ectopic calcification-moth-eaten skeletal dysplasia.; Moth-eaten skeletal dysplasia.; ","cross_references":"MeSH; D010009.","definition":"A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. ","keywords":null},{"identifier":"Rhizomelic chondrodysplasia punctata 2.","acronym":"RCDP2.","accession":"DI-01002","synonyms":"Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency.; DHAPAT deficiency.; Dihydroxyacetonephosphate acyltransferase deficiency.; Glyceronephosphate O-acyltransferase deficiency.; GNPAT deficiency.; Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency.; Rhizomelic chondrodysplasia punctata, type 2.; ","cross_references":"MeSH; D018902.","definition":"A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. ","keywords":"KW-0685:Rhizomelic chondrodysplasia punctata.; "},{"identifier":"Chondrodysplasia punctata 1, X-linked recessive.","acronym":"CDPX1.","accession":"DI-00302","synonyms":"Chondrodysplasia punctata brachytelephalangic.; ","cross_references":"MeSH; D002806.","definition":"A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. ","keywords":null},{"identifier":"Nivelon-Nivelon-Mabille syndrome.","acronym":"NNMS.","accession":"DI-05999","synonyms":"Chondrodysplasia-pseudohermaphroditism syndrome.; ","cross_references":"MeSH; D058490.","definition":"An autosomal recessive syndrome characterized by progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Additional variable features include early infantile-onset seizures, intrauterine and postnatal growth retardation, generalized chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be present. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type.","acronym":"SMDMDM.","accession":"DI-04374","synonyms":"Chondrodysplasia, Megarbane-Dagher-Melike type.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Schneckenbecken dysplasia.","acronym":"SHNKND.","accession":"DI-02286","synonyms":"Chondrodysplasia, lethal neonatal, with snail-like pelvis.; ","cross_references":"MeSH; D010009.","definition":"A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Cholesteryl ester storage disease.","acronym":"CESD.","accession":"DI-00301","synonyms":"Cholesterol ester hydrolase deficiency, partial.; Cholesterol ester storage disease.; LAL deficiency, partial.; LIPA deficiency, partial.; Lysosomal acid lipase deficiency, partial.; ","cross_references":"MeSH; D015223.","definition":"An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood. ","keywords":null},{"identifier":"Wolman disease.","acronym":"WOLD.","accession":"DI-01152","synonyms":"Cholesterol ester hydrolase deficiency, complete.; LAL deficiency, complete.; LIPA deficiency, complete.; Lysosomal acid lipase deficiency, acute infantile.; Lysosomal acid lipase deficiency, complete.; ","cross_references":"MeSH; D015223.","definition":"An autosomal recessive, fulminant form of lysosomal acid lipase deficiency manifesting in early infancy. It is characterized by massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. In addition, accumulation of cholesteryl esters in the zona reticularis of the adrenal gland leads to adrenal calcification and cortical insufficiency. Death occurs early in life from inanition. ","keywords":null},{"identifier":"Hardikar syndrome.","acronym":"HDKR.","accession":"DI-06282","synonyms":"Cholestasis with pigmentary retinopathy and cleft palate syndrome.; ","cross_references":"MeSH; D000015.","definition":"An X-linked dominant, multiple congenital anomaly syndrome characterized by foregut malformations, intestinal malrotation, liver and biliary tract disease, genitourinary abnormalities, facial clefting, and pigmentary retinopathy. Some patients may have congenital cardiac defects or vascular abnormalities, including aortic coarctation and carotid/intracranial aneurysms. Neurodevelopment and cognition is normal. ","keywords":null},{"identifier":"Congenital bile acid synthesis defect 2.","acronym":"CBAS2.","accession":"DI-00330","synonyms":"Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency.; ","cross_references":"MeSH; D002780.","definition":"A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. ","keywords":"KW-0988:Intrahepatic cholestasis.; "},{"identifier":"Cholestasis, progressive familial intrahepatic, 12.","acronym":"PFIC12.","accession":"DI-06487","synonyms":"Cholestasis, isolated low -GGT.; ","cross_references":"MeSH; D002780.","definition":"A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC12 is an autosomal recessive form characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. ","keywords":"KW-0988:Intrahepatic cholestasis.; "},{"identifier":"Gallbladder disease 1.","acronym":"GBD1.","accession":"DI-01341","synonyms":"Cholecystitis.; Cholelithiasis.; Gallstones.; ","cross_references":"MeSH; D042882.","definition":"One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. ","keywords":null},{"identifier":"Hydatidiform mole, recurrent, 1.","acronym":"HYDM1.","accession":"DI-01758","synonyms":"CHM.; Complete hydatidiform mole.; Gestational trophoblastic disease.; Hydatidiform mole.; HYDM.; ","cross_references":"MeSH; D006828.","definition":"A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. ","keywords":null},{"identifier":"Diarrhea 1, secretory chloride, congenital.","acronym":"DIAR1.","accession":"DI-01395","synonyms":"Chloridorrhea congenital.; CLD.; Congenital chloride diarrhea Finnish type.; Diarrhea 1 secretory chloride congenital.; ","cross_references":"MeSH; D003968.","definition":"A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature. ","keywords":null},{"identifier":"Schaaf-Yang syndrome.","acronym":"SHFYNG.","accession":"DI-03984","synonyms":"Chitayat-Hall syndrome.; Prader-Willi-like syndrome.; PWLS.; ","cross_references":"MeSH; D000015.","definition":"A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features. ","keywords":"KW-0550:Obesity.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome.","acronym":"CHIME.","accession":"DI-03465","synonyms":"CHIME syndrome.; Glycosylphosphatidylinositol biosynthesis defect 5.; GPIBD5.; Zunich neuroectodermal syndrome.; ","cross_references":"MeSH; D008607.","definition":"An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. ","keywords":"KW-0209:Deafness.; KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal recessive, 8.","acronym":"DFNB8.","accession":"DI-00859","synonyms":"Childhood-onset neurosensory deafness autosomal recessive 8.; Deafness autosomal recessive 10.; Deafness autosomal recessive 8/10.; Deafness neurosensory autosomal recessive 8.; DFNB10.; Neurosensory nonsyndromic recessive deafness 8.; Non-syndromic neurosensory deafness autosomal recessive type 8.; Non-syndromic sensorineural deafness autosomal recessive type 8.; NSRD8.; ","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":"Chilblain lupus 1.","acronym":"CHBL1.","accession":"DI-01339","synonyms":"Chilblain lupus erythematosus.; CHLE.; Hutchinson lupus.; ","cross_references":"MeSH; D008178.","definition":"A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. ","keywords":null}]}