{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2300&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2260&ordering=-synonyms","results":[{"identifier":"Erythrokeratodermia variabilis et progressiva 3.","acronym":"EKVP3.","accession":"DI-05019","synonyms":null,"cross_references":"MeSH; D056266.","definition":"A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Erythrokeratodermia variabilis et progressiva 4.","acronym":"EKVP4.","accession":"DI-05020","synonyms":null,"cross_references":"MeSH; D056266.","definition":"A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Erythrokeratodermia variabilis et progressiva 5.","acronym":"EKVP5.","accession":"DI-05138","synonyms":null,"cross_references":"MeSH; D056266.","definition":"A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Erythrokeratodermia variabilis et progressiva 6.","acronym":"EKVP6.","accession":"DI-05634","synonyms":null,"cross_references":"MeSH; D056266.","definition":"A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP6 inheritance is autosomal dominant. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Ciliary dyskinesia, primary, 51.","acronym":"CILD51.","accession":"DI-06701","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Erythrokeratodermia variabilis et progressiva 7.","acronym":"EKVP7.","accession":"DI-06018","synonyms":null,"cross_references":"MeSH; D056266.","definition":"A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP7 is an autosomal recessive form characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet, as well as erythematous annular skin lesions. Pruritus, woolly hair, and dystrophic nails may also be present. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Basal ganglia calcification, idiopathic, 6.","acronym":"IBGC6.","accession":"DI-04453","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Erythropoietic protoporphyria, X-linked dominant.","acronym":"XLDPT.","accession":"DI-00485","synonyms":null,"cross_references":"MeSH; D046351.","definition":"A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. ","keywords":null},{"identifier":"Ciliary dyskinesia, primary, 53.","acronym":"CILD53.","accession":"DI-06809","synonyms":null,"cross_references":"MeSH; D007619.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD53 is an autosomal recessive form characterized by randomization of the left-right body asymmetry and respiratory symptoms. ","keywords":"KW-1012:Kartagener syndrome.; "},{"identifier":"Essential hypertension.","acronym":"EHT.","accession":"DI-02647","synonyms":null,"cross_references":"MeSH; D006973.","definition":"A condition in which blood pressure is consistently higher than normal with no identifiable cause. ","keywords":null},{"identifier":"Birk-Landau-Perez syndrome.","acronym":"BILAPES.","accession":"DI-05046","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. ","keywords":null},{"identifier":"Ethylmalonic encephalopathy.","acronym":"EE.","accession":"DI-01539","synonyms":null,"cross_references":"MedGen; C1865349.","definition":"Autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria. ","keywords":null},{"identifier":"Immunodeficiency 15B.","acronym":"IMD15B.","accession":"DI-04000","synonyms":null,"cross_references":"MeSH; D016511.","definition":"An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ","keywords":"KW-0705:SCID.; "},{"identifier":"Immunodeficiency 15A.","acronym":"IMD15A.","accession":"DI-05387","synonyms":null,"cross_references":"MeSH; D016511.","definition":"An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. ","keywords":null},{"identifier":"Exercise intolerance, riboflavin-responsive.","acronym":"RREI.","accession":"DI-04667","synonyms":null,"cross_references":"MeSH; D009135.","definition":"A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 7, autosomal recessive.","acronym":"IBGC7.","accession":"DI-05477","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis.","acronym":"EPIDACH.","accession":"DI-01540","synonyms":null,"cross_references":"MedGen; C2675184.","definition":"Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. ","keywords":null},{"identifier":"Anemia, congenital dyserythropoietic, 3B, autosomal recessive.","acronym":"CDAN3B.","accession":"DI-06364","synonyms":null,"cross_references":"MeSH; D000742.","definition":"An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow. ","keywords":"KW-1055:Congenital dyserythropoietic anemia.; "},{"identifier":"Fabry disease.","acronym":"FD.","accession":"DI-01544","synonyms":null,"cross_references":"MedGen; C1970820.","definition":"Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. ","keywords":null},{"identifier":"Neurooculorenal syndrome.","acronym":"NORS.","accession":"DI-06637","synonyms":null,"cross_references":"MeSH; D000013.","definition":"An autosomal recessive syndrome characterized by variable clinical features including congenital renal anomalies, neurodevelopmental defects, intellectual impairment, cardiac defects, and ocular anomalies. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life. ","keywords":"KW-0991:Intellectual disability.; "}]}