{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4640&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4600&ordering=synonyms","results":[{"identifier":"Hypotrichosis and recurrent skin vesicles.","acronym":"HRSV.","accession":"DI-02555","synonyms":null,"cross_references":"MeSH; D007039.","definition":"A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. ","keywords":"KW-1063:Hypotrichosis.; "},{"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 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":"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":"Arthrogryposis multiplex congenita 6.","acronym":"AMC6.","accession":"DI-06114","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. ","keywords":null},{"identifier":"Hypotrichosis 15.","acronym":"HYPT15.","accession":"DI-06567","synonyms":null,"cross_references":"MeSH; D007039.","definition":"A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT15 is an autosomal recessive form characterized by sparse to absent scalp and body hair. Eyebrows and eyelashes may be sparse or absent as well. ","keywords":"KW-1063:Hypotrichosis.; "},{"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":"Hypotrichosis 14.","acronym":"HYPT14.","accession":"DI-05448","synonyms":null,"cross_references":"MeSH; D007039.","definition":"A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis 12.","acronym":"HYPT12.","accession":"DI-04148","synonyms":null,"cross_references":"MeSH; D007039.","definition":"A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis 11.","acronym":"HYPT11.","accession":"DI-03644","synonyms":null,"cross_references":"MeSH; D007039.","definition":"A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected. ","keywords":"KW-1063:Hypotrichosis.; "},{"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 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":"Hypotonia-cystinuria syndrome.","acronym":"HCS.","accession":"DI-01801","synonyms":null,"cross_references":"MedGen; C1848030.","definition":"Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. ","keywords":null},{"identifier":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.","acronym":"IHPRF3.","accession":"DI-04694","synonyms":null,"cross_references":"MeSH; D009422.","definition":"An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. ","keywords":null},{"identifier":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.","acronym":"IHPRF2.","accession":"DI-04645","synonyms":null,"cross_references":"MeSH; D020271.","definition":"An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Hypotonia, infantile, with psychomotor retardation.","acronym":"IHPMR.","accession":"DI-04614","synonyms":null,"cross_references":"MeSH; D011596.","definition":"An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. ","keywords":null},{"identifier":"Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.","acronym":"HIDEA.","accession":"DI-05609","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.","acronym":"HADDTS.","accession":"DI-05219","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. ","keywords":"KW-0991:Intellectual disability.; "},{"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":"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.; "}]}