Human Disease List
GET /api/human_diseases/?format=api&offset=2880&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2900&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2860&ordering=-identifier", "results": [ { "identifier": "Macrothrombocytopenia, isolated, 1, autosomal dominant.", "acronym": "MACTHC1.", "accession": "DI-02623", "synonyms": null, "cross_references": "MeSH; D013921.", "definition": "A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. ", "keywords": null }, { "identifier": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.", "acronym": "MATINS.", "accession": "DI-01951", "synonyms": "Alport syndrome, with macrothrombocytopenia.; BDPLT6.; Bleeding disorder platelet-type 6.; Dohle leukocyte inclusions with giant platelets.; Epstein syndrome.; EPSTNS.; Fechtner syndrome.; FTNS.; Giant platelet syndrome with thrombocytopenia.; Macrothrombocytopathy, nephritis, and deafness.; Macrothrombocytopathy-nephritis-deafness.; Macrothrombocytopenia and progressive sensorineural deafness.; Macrothrombocytopenia with leukocyte inclusions.; May-Hegglin anomaly.; MHA.; MPSD.; SBS.; Sebastian platelet syndrome.; Sebastian syndrome.; ", "cross_references": "MeSH; D013921.", "definition": "An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients. ", "keywords": null }, { "identifier": "Macroglobulinemia, Waldenstrom, 1.", "acronym": "WM1.", "accession": "DI-06042", "synonyms": "Macroglobulinemia, Waldenstrom, somatic.; ", "cross_references": "MeSH; D008258.", "definition": "A malignant B-cell neoplasm characterized by lymphoplasmacytic infiltration of the bone marrow and hypersecretion of monoclonal immunoglobulin M (IgM) protein. Clinical features are variable and include anemia, thrombocytopenia, hepatosplenomegaly, and lymphadenopathy. Many patients have asymptomatic or indolent disease. ", "keywords": null }, { "identifier": "Macrodactyly.", "acronym": "MADAC.", "accession": "DI-05365", "synonyms": "Congenital macrodactylia.; Megalodactyly.; Type I macrodactyly.; ", "cross_references": "MeSH; D017880.", "definition": "A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot. ", "keywords": null }, { "identifier": "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin.", "acronym": "MNDLFH.", "accession": "DI-06356", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disease characterized by pharyngeal lymphoid hypertrophy, with adenoid overgrowth, sleep apnea, macrocephaly without structural brain abnormalities, and impaired intellectual development. An increased fraction of fetal hemoglobin has been observed in some patients. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Macrocephaly/megalencephaly syndrome, autosomal recessive.", "acronym": "MGCPH.", "accession": "DI-03993", "synonyms": null, "cross_references": "MeSH; D058627.", "definition": "An autosomal recessive disorder characterized by abnormal enlargement of the cerebral hemispheres, intellectual disability, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism. ", "keywords": null }, { "identifier": "Macrocephaly, dysmorphic facies, and psychomotor retardation.", "acronym": "MDFPMR.", "accession": "DI-04773", "synonyms": null, "cross_references": "MeSH; D019465.", "definition": "An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Macrocephaly/autism syndrome.", "acronym": "MCEPHAS.", "accession": "DI-01924", "synonyms": null, "cross_references": "MedGen; C1854416.", "definition": "Patients have autism spectrum disorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average head circumference +4.0 SD). ", "keywords": "KW-1268:Autism spectrum disorder.; " }, { "identifier": "Macrocephaly, acquired, with impaired intellectual development.", "acronym": "MACID.", "accession": "DI-05465", "synonyms": null, "cross_references": "MeSH; D008607.", "definition": "An autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild intellectual disability. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Lysinuric protein intolerance.", "acronym": "LPI.", "accession": "DI-01920", "synonyms": "Dibasic amino aciduria II.; ", "cross_references": "MeSH; D000592.", "definition": "A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. ", "keywords": "KW-1285:Osteoporosis.; " }, { "identifier": "Lynch syndrome 8.", "acronym": "LYNCH8.", "accession": "DI-02724", "synonyms": "Hereditary non-polyposis colorectal cancer 8.; HNPCC8.; ", "cross_references": "MeSH; D003123.", "definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ", "keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; " }, { "identifier": "Lynch syndrome 5.", "acronym": "LYNCH5.", "accession": "DI-00554", "synonyms": "Hereditary non-polyposis colorectal cancer 5.; HNPCC5.; ", "cross_references": "MeSH; D003123.", "definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ", "keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; " }, { "identifier": "Lynch syndrome 4.", "acronym": "LYNCH4.", "accession": "DI-00553", "synonyms": "Hereditary non-polyposis colorectal cancer 4.; HNPCC4.; ", "cross_references": "MeSH; D003123.", "definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ", "keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; " }, { "identifier": "Lynch syndrome 2.", "acronym": "LYNCH2.", "accession": "DI-00551", "synonyms": "Hereditary non-polyposis colorectal cancer 2.; HNPCC2.; ", "cross_references": "MeSH; D003123.", "definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ", "keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; " }, { "identifier": "Lynch syndrome 1.", "acronym": "LYNCH1.", "accession": "DI-00550", "synonyms": "Hereditary non-polyposis colorectal cancer 1.; HNPCC1.; Lynch cancer family syndrome.; Lynch syndrome.; Lynch syndrome type I.; Lynch syndrome type II.; ", "cross_references": "MeSH; D003123.", "definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ", "keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; " }, { "identifier": "Lymphoproliferative syndrome, X-linked, 2.", "acronym": "XLP2.", "accession": "DI-00695", "synonyms": "XIAP deficiency.; ", "cross_references": "MeSH; D008232.", "definition": "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. ", "keywords": null }, { "identifier": "Lymphoproliferative syndrome, X-linked, 1.", "acronym": "XLP1.", "accession": "DI-00694", "synonyms": "Duncan disease.; IMD5.; Immunodeficiency 5.; Purtilo syndrome.; X-linked lymphoproliferative disease.; X-linked progressive combined variable immunodeficiency.; XLPD.; ", "cross_references": "MeSH; D008232.", "definition": "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. ", "keywords": null }, { "identifier": "Lymphoproliferative syndrome 3.", "acronym": "LPFS3.", "accession": "DI-05443", "synonyms": null, "cross_references": "MeSH; D008232.", "definition": "An autosomal recessive, early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus infection in B cells, abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have lymphadenopathy and hypogammaglobulinemia, and may suffer from recurrent infections. ", "keywords": null }, { "identifier": "Lymphoproliferative syndrome 2.", "acronym": "LPFS2.", "accession": "DI-03702", "synonyms": "CD27 deficiency.; ", "cross_references": "MeSH; D008232.", "definition": "An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. ", "keywords": null }, { "identifier": "Lymphoproliferative syndrome 1.", "acronym": "LPFS1.", "accession": "DI-02628", "synonyms": "Lymphoproliferative syndrome, EBV-associated, autosomal, 1.; ", "cross_references": "MeSH; D008232.", "definition": "A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. ", "keywords": null } ] }