{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1200","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1160","results":[{"identifier":"Cohen syndrome.","acronym":"COH1.","accession":"DI-00314","synonyms":"CHS1.; Hypotonia-obesity-prominent incisors.; Pepper syndrome.; ","cross_references":"MeSH; D009765.","definition":"A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. ","keywords":"KW-0550:Obesity.; "},{"identifier":"Cole-Carpenter syndrome 1.","acronym":"CLCRP1.","accession":"DI-04383","synonyms":"Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features.; ","cross_references":"MeSH; D010013.","definition":"A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant. ","keywords":"KW-0989:Craniosynostosis.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Cole-Carpenter syndrome 2.","acronym":"CLCRP2.","accession":"DI-04384","synonyms":null,"cross_references":"MeSH; D010013.","definition":"A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive. ","keywords":"KW-0989:Craniosynostosis.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Cole disease.","acronym":"COLED.","accession":"DI-03946","synonyms":null,"cross_references":"MeSH; D017496.","definition":"A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy. ","keywords":null},{"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":"Coloboma, ocular, autosomal recessive.","acronym":"COAR.","accession":"DI-04214","synonyms":null,"cross_references":"MeSH; D003103.","definition":"An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. ","keywords":null},{"identifier":"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development.","acronym":"COB1.","accession":"DI-04066","synonyms":null,"cross_references":"MeSH; D034381.","definition":"An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss. ","keywords":null},{"identifier":"Coloboma of optic nerve.","acronym":"COLON.","accession":"DI-01358","synonyms":null,"cross_references":"MeSH; D009901.","definition":"An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. ","keywords":null},{"identifier":"Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.","acronym":"COMMAD.","accession":"DI-04925","synonyms":"COMMAD syndrome.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis. ","keywords":"KW-0015:Albinism.; KW-0209:Deafness.; KW-0987:Osteopetrosis.; KW-1013:Microphthalmia.; "},{"identifier":"Colorblindness, partial, deutan series.","acronym":"CBD.","accession":"DI-02144","synonyms":"DCB.; Deutan colorblindness.; Deuteranopia.; Green colorblindness.; ","cross_references":"MeSH; D003117.","definition":"A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. ","keywords":null},{"identifier":"Colorblindness, partial, protan series.","acronym":"CBP.","accession":"DI-02145","synonyms":"Protanopia.; Red colorblindness.; ","cross_references":"MeSH; D003117.","definition":"A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. ","keywords":null},{"identifier":"Colorectal cancer.","acronym":"CRC.","accession":"DI-01359","synonyms":"Colon cancer.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ","keywords":null},{"identifier":"Colorectal cancer 1.","acronym":"CRCS1.","accession":"DI-02924","synonyms":"Susceptibility to colorectal adenoma and cancer.; Susceptibility to colorectal cancer on chromosome 9.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ","keywords":null},{"identifier":"Colorectal cancer 10.","acronym":"CRCS10.","accession":"DI-03661","synonyms":"Susceptibility to colorectal cancer on chromosome 19q.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ","keywords":null},{"identifier":"Colorectal cancer 12.","acronym":"CRCS12.","accession":"DI-03648","synonyms":"Susceptibility to colorectal cancer on chromosome 12q24.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. ","keywords":null},{"identifier":"Colorectal cancer 3.","acronym":"CRCS3.","accession":"DI-02891","synonyms":"Susceptibility to colorectal cancer on chromosome 18.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ","keywords":null},{"identifier":"Colorectal cancer 4.","acronym":"CRCS4.","accession":"DI-03479","synonyms":"Susceptibility to colorectal cancer on chromosome 15.; ","cross_references":"MeSH; D015179.","definition":"A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ","keywords":null},{"identifier":"Combined cellular and humoral immune defects with granulomas.","acronym":"CHIDG.","accession":"DI-01360","synonyms":null,"cross_references":"MedGen; C2673536.","definition":"Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. ","keywords":null},{"identifier":"Combined D-2- and L-2-hydroxyglutaric aciduria.","acronym":"D2L2AD.","accession":"DI-03710","synonyms":null,"cross_references":"MeSH; D020739.","definition":"An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. ","keywords":null},{"identifier":"Combined deficiency of vitamin K-dependent clotting factors 1.","acronym":"VKCFD1.","accession":"DI-01361","synonyms":"MCFD3.; Multiple coagulation factor deficiency III.; ","cross_references":"MedGen; C1848534.","definition":"VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. ","keywords":null}]}