{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=900","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=860","results":[{"identifier":"Cataract 4, multiple types.","acronym":"CTRCT4.","accession":"DI-01456","synonyms":"Aculeiform cataract.; CACA.; Cataract 4, multiple types, with or without microcornea.; CCA3.; CCP.; Congenital cataract blue dot type 3.; Congenital cataract cerulean type 3.; Congenital non-nuclear polymorphic cataract.; Crystalline aculeiform cataract.; PCC.; Punctate, progressive juvenile-onset, cataract.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 50 with or without glaucoma.","acronym":"CTRCT50.","accession":"DI-06610","synonyms":null,"cross_references":"MeSH; D002386.","definition":"A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 5, multiple types.","acronym":"CTRCT5.","accession":"DI-02507","synonyms":"CAM.; Cataract Marner type.; CTM.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 6, multiple types.","acronym":"CTRCT6.","accession":"DI-02506","synonyms":"Age-related cortical cataract 2.; ARCC2.; Cataract posterior polar 1.; CTPA.; CTPP.; CTPP1.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 9, multiple types.","acronym":"CTRCT9.","accession":"DI-01200","synonyms":"Autosomal dominant congenital cataract.; Autosomal recessive congenital cataract 1.; Cataract 9, multiple types, with or without microcornea.; Cataract autosomal dominant.; CATC1.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract, multiple types 19.","acronym":"CTRCT19.","accession":"DI-03783","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.","acronym":"CAGSSS.","accession":"DI-04264","synonyms":null,"cross_references":"MeSH; D009477.","definition":"An autosomal recessive disorder characterized by cataracts, short- stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; "},{"identifier":"Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1.","acronym":"CHINE1.","accession":"DI-06695","synonyms":null,"cross_references":"MeSH; D009404.","definition":"An X-linked dominant disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. Males are more severely affected than females, and death occurs in early childhood. Affected females develop early-onset hearing impairment, early-onset cataracts, but only rarely have nephrotic syndrome. They do not have enterocolitis. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; "},{"identifier":"Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2.","acronym":"CHINE2.","accession":"DI-06696","synonyms":null,"cross_references":"MeSH; D009404.","definition":"An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; "},{"identifier":"Cataracts, spastic paraparesis, and speech delay.","acronym":"CSPSD.","accession":"DI-06115","synonyms":null,"cross_references":"MeSH; D009461.","definition":"An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Catel-Manzke syndrome.","acronym":"CATMANS.","accession":"DI-04301","synonyms":"Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome.; Index finger anomaly with Pierre Robin syndrome.; Micrognathia digital syndrome.; Palatodigital syndrome, Catel-Manzke type.; Pierre Robin syndrome with hyperphalangy and clinodactyly.; ","cross_references":"MeSH; D010855.","definition":"A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). ","keywords":null},{"identifier":"CATIFA syndrome.","acronym":"CATIFA.","accession":"DI-05742","synonyms":"Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention deficit-hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Caudal duplication anomaly.","acronym":"CADUA.","accession":"DI-02877","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A condition characterized by the occurrence of duplications of different organs in the caudal region. ","keywords":null},{"identifier":"Cavitary optic disc anomalies.","acronym":"CODA.","accession":"DI-04537","synonyms":null,"cross_references":"MeSH; D015785.","definition":"An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. ","keywords":null},{"identifier":"CEBALID syndrome.","acronym":"CEBALID.","accession":"DI-05758","synonyms":"Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development.; MCTT.; MN1 C-terminal truncation syndrome.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Celiac disease 13.","acronym":"CELIAC13.","accession":"DI-02885","synonyms":"Gluten-sensitive enteropathy 13.; ","cross_references":"MeSH; D002446.","definition":"A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. ","keywords":null},{"identifier":"Celiac disease 3.","acronym":"CELIAC3.","accession":"DI-02883","synonyms":"Gluten-sensitive enteropathy 3.; ","cross_references":"MeSH; D002446.","definition":"A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. ","keywords":null},{"identifier":"Celiac disease 4.","acronym":"CELIAC4.","accession":"DI-02884","synonyms":"Gluten-sensitive enteropathy 4.; ","cross_references":"MeSH; D002446.","definition":"A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. ","keywords":null},{"identifier":"Cenani-Lenz syndactyly syndrome.","acronym":"CLSS.","accession":"DI-02834","synonyms":"Cenani-Lenz syndactyly.; Cenani-Lenz syndrome.; Cenani syndactylism.; Syndactyly type 7.; Syndactyly type VII.; ","cross_references":"MeSH; D013576.","definition":"A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. ","keywords":null},{"identifier":"Central hypoventilation syndrome, congenital, 1.","acronym":"CCHS1.","accession":"DI-01391","synonyms":"CCHS.; Central hypoventilation syndrome, congenital.; Congenital failure of autonomic control.; Ondine curse.; ","cross_references":"MeSH; D020182.","definition":"An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. ","keywords":null}]}