{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2280","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2240","results":[{"identifier":"Erythrocytosis, familial, 4.","acronym":"ECYT4.","accession":"DI-00482","synonyms":null,"cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Erythrocytosis, familial, 5.","acronym":"ECYT5.","accession":"DI-05215","synonyms":null,"cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Erythrocytosis, familial, 8.","acronym":"ECYT8.","accession":"DI-03027","synonyms":"Bisphosphoglycerate mutase deficiency.; Bisphosphoglyceromutase deficiency.; BPGM deficiency.; Diphosphoglycerate mutase deficiency of erythrocyte.; DPGM deficiency.; Erythrocytosis due to bisphosphoglycerate mutase deficiency.; ","cross_references":"MeSH; D000743.","definition":"An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE.","acronym":"EPKHE.","accession":"DI-03968","synonyms":"SAM syndrome.; Severe dermatitis, multiple allergies, and metabolic wasting syndrome.; ","cross_references":"MeSH; D007645.","definition":"A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. ","keywords":"KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "},{"identifier":"Erythrokeratodermia variabilis et progressiva 1.","acronym":"EKVP1.","accession":"DI-00483","synonyms":"Congenital familial erythrokeratodermia figurata in plaques.; EKV.; EKVP.; Erythrokeratodermia progressive symmetric.; Erythrokeratodermia variabilis.; Erythrokeratodermia variabilis et progressiva.; Erythrokeratodermia variabilis Mendes da Costa type.; Erythrokeratodermia variabilis with erythema gyratum repens.; Greither Disease.; Keratosis palmoplantaris transgrediens et progrediens.; PSEK.; Transgrediens et progrediens palmoplantar keratoderma.; ","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 2.","acronym":"EKVP2.","accession":"DI-05018","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 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":"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":"Erythroleukemia, familial.","acronym":"FERLK.","accession":"DI-05396","synonyms":"DI Guglielmo disease, familial.; Leukemia, acute myelogenous, M6.; ","cross_references":"MeSH; D004915.","definition":"An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete. ","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":"Esophageal cancer.","acronym":"ESCR.","accession":"DI-01537","synonyms":"Aerodigestive tract cancer.; ESCC.; Esophageal squamous cell carcinoma.; Gastric cardia adenocarcinoma.; ","cross_references":"MeSH; D004938.","definition":"A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. ","keywords":null},{"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":"Estrogen resistance.","acronym":"ESTRR.","accession":"DI-03869","synonyms":"Estrogen insensitivity.; ","cross_references":"MeSH; D004351.","definition":"A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. ","keywords":"KW-1285:Osteoporosis.; "},{"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":"Even-plus syndrome.","acronym":"EVPLS.","accession":"DI-04676","synonyms":"Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Ewing sarcoma.","acronym":"ES.","accession":"DI-02610","synonyms":"Askin tumor.; ESFT.; Ewing's tumor.; Ewing sarcoma family of tumors.; Extraosseous Ewing tumor.; Peripheral neuroepithelioma.; PNE.; PNET.; PNET of the chest wall.; Primitive neuroectodermal tumor.; ","cross_references":"MeSH; D012512.","definition":"A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. ","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}]}