{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3900&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3860&ordering=synonyms","results":[{"identifier":"Atrial septal defect 9.","acronym":"ASD9.","accession":"DI-03370","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Kilquist syndrome.","acronym":"KILQS.","accession":"DI-05956","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive, multisystem disorder characterized by severe global developmental delay, sensorineural hearing loss, poor overall growth, mild facial dysmorphism, gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, and a striking lack of tear fluid, saliva, and sweat. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Keutel syndrome.","acronym":"KTLS.","accession":"DI-01864","synonyms":null,"cross_references":"MedGen; C1855607.","definition":"An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. ","keywords":null},{"identifier":"Denys-Drash syndrome.","acronym":"DDS.","accession":"DI-01480","synonyms":null,"cross_references":"MedGen; C0950121.","definition":"Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. ","keywords":null},{"identifier":"Keratosis, seborrheic.","acronym":"KERSEB.","accession":"DI-00625","synonyms":null,"cross_references":"MeSH; D017492.","definition":"A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. ","keywords":null},{"identifier":"Keratosis pilaris atrophicans.","acronym":"KPA.","accession":"DI-04889","synonyms":null,"cross_references":"MeSH; D007642.","definition":"A group of rare genodermatoses characterized by keratotic follicular papules, variable degrees of inflammation, and secondary atrophic scarring. Most cases are associated with an atopic diathesis and keratosis pilaris on the extensor extremities. KPA is comprised of three distinct clinical subtypes: keratosis pilaris atrophicans faciei, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans. Affected individuals may present with features overlapping the 3 subtypes. ","keywords":null},{"identifier":"Cataract 48.","acronym":"CTRCT48.","accession":"DI-05553","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. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Atrial septal defect 8.","acronym":"ASD8.","accession":"DI-03333","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Klippel-Trenaunay syndrome.","acronym":"KTS.","accession":"DI-01866","synonyms":null,"cross_references":"MedGen; C0022739.","definition":"Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. ","keywords":null},{"identifier":"Keratoderma, palmoplantar, with deafness.","acronym":"PPKDFN.","accession":"DI-00898","synonyms":null,"cross_references":"MeSH; D007645.","definition":"An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness. ","keywords":"KW-0209:Deafness.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Dentici-Novelli neurodevelopmental syndrome.","acronym":"DENNED.","accession":"DI-06425","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Disease severity is variable. More severely affected individuals have profound intellectual disability, axial hypotonia, peripheral spasticity, prenatal and postnatal microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Patients with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Martin-Probst syndrome.","acronym":"MRXSMP.","accession":"DI-03524","synonyms":null,"cross_references":"MeSH; D038901.","definition":"A rare neurodevelopmental disorder characterized by intellectual disability, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Cataract 45.","acronym":"CTRCT45.","accession":"DI-04671","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":"Dentatorubral-pallidoluysian atrophy.","acronym":"DRPLA.","accession":"DI-01476","synonyms":null,"cross_references":"MedGen; C2931846.","definition":"Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. ","keywords":null},{"identifier":"Keratoderma, palmoplantar, Nagashima type.","acronym":"PPKN.","accession":"DI-04005","synonyms":null,"cross_references":"MeSH; D007645.","definition":"An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Keratoderma, palmoplantar, Bothnian type.","acronym":"PPKB.","accession":"DI-03900","synonyms":null,"cross_references":"MeSH; D053546.","definition":"A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Keratoconus 9.","acronym":"KTCN9.","accession":"DI-05225","synonyms":null,"cross_references":"MeSH; D007640.","definition":"An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision. ","keywords":null},{"identifier":"Keratoconus 1.","acronym":"KTCN1.","accession":"DI-01861","synonyms":null,"cross_references":"MedGen; C1835677.","definition":"Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission. ","keywords":null},{"identifier":"Dent disease 2.","acronym":"DENT2.","accession":"DI-00386","synonyms":null,"cross_references":"MeSH; D015499.","definition":"An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. ","keywords":null},{"identifier":"Cataract 43.","acronym":"CTRCT43.","accession":"DI-04361","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.; "}]}