{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5840&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5800&ordering=-identifier","results":[{"identifier":"Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.","acronym":"CAPOS.","accession":"DI-04236","synonyms":"CAPOS syndrome.; ","cross_references":"MeSH; D009896.","definition":"An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Central hypoventilation syndrome, congenital, 3.","acronym":"CCHS3.","accession":"DI-06215","synonyms":null,"cross_references":"MeSH; D007040.","definition":"A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension. ","keywords":null},{"identifier":"Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction.","acronym":"CCHS2.","accession":"DI-06200","synonyms":null,"cross_references":"MeSH; D007040.","definition":"An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. ","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},{"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":"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":"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 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":"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":"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":"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":"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":"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":"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":"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, 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, 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":"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":"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 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.; "}]}