{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3000","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2960","results":[{"identifier":"Hypotrichosis 4.","acronym":"HYPT4.","accession":"DI-02514","synonyms":"Hypotrichosis Marie Unna 1.; Marie Unna hereditary hypotrichosis type 1.; MUHH1.; ","cross_references":"MeSH; D007039.","definition":"An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis 5.","acronym":"HYPT5.","accession":"DI-05779","synonyms":"Marie Unna hereditary hypotrichosis 2.; MUHH2.; ","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. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis 6.","acronym":"HYPT6.","accession":"DI-01912","synonyms":"HTL.; Hypotrichosis localized autosomal recessive.; Hypotrichosis localized autosomal recessive 1.; LAH.; LAH1.; Monilethrix-like hypotrichosis.; ","cross_references":"MeSH; D007039.","definition":"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 disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis 7.","acronym":"HYPT7.","accession":"DI-01177","synonyms":"AH.; Alopecia universalis congenita Mari type.; Hypotrichosis autosomal recessive.; Hypotrichosis localized autosomal recessive 2.; LAH2.; Total hypotrichosis Mari type.; ","cross_references":"MeSH; D007039.","definition":"A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. HYPT7 inheritance is autosomal recessive. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis 8.","acronym":"HYPT8.","accession":"DI-01913","synonyms":"Hypotrichosis localized autosomal recessive 3.; LAH3.; ","cross_references":"MeSH; D007039.","definition":"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 disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT8 inheritance is autosomal recessive. ","keywords":"KW-1063:Hypotrichosis.; "},{"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":"Hypotrichosis congenital with juvenile macular dystrophy.","acronym":"HJMD.","accession":"DI-01803","synonyms":"Hypotrichosis with cone-rod dystrophy.; ","cross_references":"MeSH; D007039.","definition":"A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.","acronym":"HLTRS.","accession":"DI-04465","synonyms":"Glomerulonephritis with sparse hair and telangiectases.; Telangiectatic membranoproliferative glomerulonephritis.; ","cross_references":"MeSH; D013684.","definition":"A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypotrichosis-lymphedema-telangiectasia syndrome.","acronym":"HLTS.","accession":"DI-01804","synonyms":null,"cross_references":"MeSH; D013684.","definition":"A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Hypouricemia renal 1.","acronym":"RHUC1.","accession":"DI-02256","synonyms":"Dalmatian hypouricemia.; Renal hypouricemia.; ","cross_references":"MeSH; D015499.","definition":"A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. ","keywords":null},{"identifier":"Hypouricemia renal 2.","acronym":"RHUC2.","accession":"DI-03137","synonyms":null,"cross_references":"MeSH; D015499.","definition":"A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. ","keywords":null},{"identifier":"Ichthyosis, annular epidermolytic, 1.","acronym":"AEI1.","accession":"DI-00580","synonyms":"AEI.; Annular ichthyosis variant of BCIE.; Cyclic ichthyosis with epidermolytic hyperkeratosis.; Ichthyosis annular epidermolytic.; ","cross_references":"MeSH; D007057.","definition":"A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI1 is characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, annular epidermolytic, 2.","acronym":"AEI2.","accession":"DI-06539","synonyms":null,"cross_references":"MeSH; D007057.","definition":"A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis bullosa of Siemens.","acronym":"IBS.","accession":"DI-00582","synonyms":"Ichthyosis bullous type.; ","cross_references":"MeSH; D053560.","definition":"A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 1.","acronym":"ARCI1.","accession":"DI-01230","synonyms":"Autosomal recessive congenital ichthyosis 1 with bathing suit distribution.; Autosomal recessive congenital ichthyosis TGM1-related.; Collodion fetus.; Desquamation of newborn.; Ichthyosis congenita.; Ichthyosis congenita II.; ICR2.; Lamellar exfoliation of newborn.; Lamellar ichthyosis 1.; LI1.; Non-erythrodermic ichthyosis.; Self-healing collodion baby.; SHCB.; ","cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 10.","acronym":"ARCI10.","accession":"DI-03671","synonyms":null,"cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 11.","acronym":"ARCI11.","accession":"DI-04098","synonyms":"ARIH.; Autosomal recessive ichthyosis with hypotrichosis.; Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis.; IFAH.; ","cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; KW-1063:Hypotrichosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 12.","acronym":"ARCI12.","accession":"DI-04921","synonyms":null,"cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 13.","acronym":"ARCI13.","accession":"DI-05041","synonyms":null,"cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 14.","acronym":"ARCI14.","accession":"DI-05040","synonyms":null,"cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "}]}