{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1500&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1460&ordering=-synonyms","results":[{"identifier":"Corneal dystrophy, posterior polymorphous, 3.","acronym":"PPCD3.","accession":"DI-02186","synonyms":null,"cross_references":"MeSH; D003317.","definition":"A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Corneal dystrophy, posterior polymorphous, 4.","acronym":"PPCD4.","accession":"DI-05267","synonyms":null,"cross_references":"MeSH; D003317.","definition":"A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Corneal dystrophy, punctiform and polychromatic pre-Descemet.","acronym":"PPPCD.","accession":"DI-06421","synonyms":null,"cross_references":"MeSH; D003317.","definition":"An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Crouzon syndrome with acanthosis nigricans.","acronym":"CAN.","accession":"DI-01453","synonyms":null,"cross_references":"MedGen; C2677099.","definition":"Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. ","keywords":null},{"identifier":"Epidermolytic hyperkeratosis 2A.","acronym":"EHK2A.","accession":"DI-06671","synonyms":null,"cross_references":"MeSH; D017488.","definition":"An autosomal dominant form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK2 inheritance is autosomal dominant or autosomal recessive. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 11.","acronym":"CDCBM11.","accession":"DI-06564","synonyms":null,"cross_references":"MeSH; D054220.","definition":"An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM11 is characterized by dilated ventricles and reduced white matter, and is associated with axonal developmental defects. ","keywords":null},{"identifier":"Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.","acronym":"CAPOK.","accession":"DI-05518","synonyms":null,"cross_references":"MeSH; D010859.","definition":"An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. ","keywords":"KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "},{"identifier":"Desmosterolosis.","acronym":"DESMOS.","accession":"DI-01482","synonyms":null,"cross_references":"MedGen; C1865596.","definition":"Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ","keywords":null},{"identifier":"Alpha-fetoprotein, hereditary persistence.","acronym":"HPAFP.","accession":"DI-04205","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. ","keywords":null},{"identifier":"Cornelia de Lange syndrome 3 with or without midline brain defects.","acronym":"CDLS3.","accession":"DI-01432","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. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cornelia de Lange syndrome 4 with or without midline brain defects.","acronym":"CDLS4.","accession":"DI-03491","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":"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":"Cornelia de Lange syndrome 6.","acronym":"CDLS6.","accession":"DI-06806","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. CDLS6 inheritance is autosomal dominant. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Deafness, autosomal dominant, 4B.","acronym":"DFNA4B.","accession":"DI-03419","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":"Candidiasis, familial, 9.","acronym":"CANDF9.","accession":"DI-04473","synonyms":null,"cross_references":"MeSH; D002178.","definition":"A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ","keywords":null},{"identifier":"Coronary artery disease, autosomal dominant, 2.","acronym":"ADCAD2.","accession":"DI-01203","synonyms":null,"cross_references":"MeSH; D003324.","definition":"A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ","keywords":null},{"identifier":"Capillary malformation-arteriovenous malformation 1.","acronym":"CMAVM1.","accession":"DI-01315","synonyms":null,"cross_references":"MeSH; D054079.","definition":"A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Coronary heart disease 6.","acronym":"CHDS6.","accession":"DI-03346","synonyms":null,"cross_references":"MeSH; D003324.","definition":"A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ","keywords":null},{"identifier":"Coronary heart disease 7.","acronym":"CHDS7.","accession":"DI-02841","synonyms":null,"cross_references":"MeSH; D003327.","definition":"A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal recessive 64.","acronym":"MRT64.","accession":"DI-05318","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. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech. ","keywords":"KW-0991:Intellectual disability.; "}]}