Human Disease List
GET /api/human_diseases/?format=api&offset=6220&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6240&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6200&ordering=-identifier", "results": [ { "identifier": "Azoospermia, obstructive, with nephrolithiasis.", "acronym": "OAZON.", "accession": "DI-06054", "synonyms": null, "cross_references": "MeSH; D053040.", "definition": "An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones. ", "keywords": null }, { "identifier": "Ayme-Gripp syndrome.", "acronym": "AYGRP.", "accession": "DI-04468", "synonyms": null, "cross_references": "MeSH; D019066.", "definition": "A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. ", "keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; " }, { "identifier": "Axenfeld-Rieger syndrome 3.", "acronym": "RIEG3.", "accession": "DI-01266", "synonyms": "Anterior chamber cleavage syndrome.; Anterior segment mesenchymal dysgenesis.; Axenfeld anomaly.; Axenfeld-Rieger anomaly.; Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss.; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss.; Rieger anomaly.; Rieger syndrome type 3.; ", "cross_references": "MeSH; D006330.", "definition": "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Axenfeld-Rieger syndrome 1.", "acronym": "RIEG1.", "accession": "DI-01265", "synonyms": "Iridogoniodysgenesis with somatic anomalies.; RGS.; RIEG.; Rieger syndrome type 1.; ", "cross_references": "MeSH; D005124.", "definition": "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin. ", "keywords": null }, { "identifier": "Avascular necrosis of the femoral head, primary 2.", "acronym": "ANFH2.", "accession": "DI-04965", "synonyms": null, "cross_references": "MeSH; D005271.", "definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ", "keywords": null }, { "identifier": "Avascular necrosis of femoral head, primary, 1.", "acronym": "ANFH1.", "accession": "DI-02197", "synonyms": "Aseptic necrosis of femoral head.; Avascular necrosis of femoral head.; Ischemic necrosis of femoral head.; Osteonecrosis of femoral head.; ", "cross_references": "MeSH; D005271.", "definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Autoinflammatory syndrome, familial, X-linked, Behcet-like 2.", "acronym": "AIFBL2.", "accession": "DI-06377", "synonyms": "Deficiency in ELF4, X-linked.; DEX.; ", "cross_references": "MeSH; D056660.", "definition": "An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood. ", "keywords": null }, { "identifier": "Autoinflammatory syndrome, familial, with or without immunodeficiency.", "acronym": "AISIMD.", "accession": "DI-06141", "synonyms": null, "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported. ", "keywords": null }, { "identifier": "Autoinflammatory syndrome, familial, Behcet-like 1.", "acronym": "AIFBL1.", "accession": "DI-04635", "synonyms": null, "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ", "keywords": null }, { "identifier": "Autoinflammatory-pancytopenia syndrome.", "acronym": "AIPCS.", "accession": "DI-06407", "synonyms": null, "cross_references": "MeSH; D010198.", "definition": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. ", "keywords": null }, { "identifier": "Autoinflammatory disease, systemic, X-linked.", "acronym": "SAIDX.", "accession": "DI-06411", "synonyms": null, "cross_references": "MeSH; D056660.", "definition": "An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. ", "keywords": null }, { "identifier": "Autoinflammatory disease, systemic, with vasculitis.", "acronym": "SAIDV.", "accession": "DI-06688", "synonyms": "LAVLI syndrome.; ", "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant disorder characterized by systemic autoinflammation manifesting in the first hours of life with diffuse purpuric skin lesions, fever, hepatosplenomegaly, and increased C- reactive protein. Additional clinical features include periorbital edema, conjunctivitis, urticaria, atopic dermatitis, abdominal pain, and arthralgia. Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. ", "keywords": null }, { "identifier": "Autoinflammatory disease, multisystem, with immune dysregulation, X-linked.", "acronym": "ADMIDX.", "accession": "DI-06712", "synonyms": "DOCK11 deficiency.; ", "cross_references": "MeSH; D001327.", "definition": "An X-linked recessive disorder apparent in infancy or early childhood, and characterized by immune dysregulation, variable cytopenias, and systemic or organ-specific autoinflammatory manifestations. Clinical features include systemic lupus erythematosus, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Death in childhood has been reported. ", "keywords": null }, { "identifier": "Autoinflammatory disease, familial, Behcet-like 3.", "acronym": "AIFBL3.", "accession": "DI-05466", "synonyms": "CMCU.; Mucocutaneous ulceration, chronic.; ", "cross_references": "MeSH; D012883.", "definition": "An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. ", "keywords": null }, { "identifier": "Autoinflammation with pulmonary and cutaneous vasculitis.", "acronym": "AIPCV.", "accession": "DI-06633", "synonyms": null, "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ", "keywords": null }, { "identifier": "Autoinflammation with infantile enterocolitis.", "acronym": "AIFEC.", "accession": "DI-04246", "synonyms": null, "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. ", "keywords": null }, { "identifier": "Autoinflammation with episodic fever and lymphadenopathy.", "acronym": "AIEFL.", "accession": "DI-05817", "synonyms": "Cleavage-resistant RIPK1-induced autoinflammatory syndrome.; CRIA syndrome.; ", "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant immunologic disorder characterized by early onset of recurrent episodes of unexplained fever, lymphadenopathy, hepatosplenomegaly, and increased levels of inflammatory cytokines and chemokines in patient serum. ", "keywords": null }, { "identifier": "Autoinflammation with episodic fever and immune dysregulation.", "acronym": "AIFID.", "accession": "DI-06889", "synonyms": "Sharpenia.; ", "cross_references": "MeSH; D056660.", "definition": "An autosomal recessive disorder characterized by recurrent fever and autoinflammation with onset in infancy or early childhood. Variable clinical manifestations include lymphadenopathy, hepatosplenomegaly, gastrointestinal inflammation, polyarthritis and joint inflammation, parotitis, and immune dysregulation. ", "keywords": null }, { "identifier": "Autoinflammation with arthritis and dyskeratosis.", "acronym": "AIADK.", "accession": "DI-04967", "synonyms": null, "cross_references": "MeSH; D056660.", "definition": "A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ", "keywords": null }, { "identifier": "Autoinflammation, panniculitis, and dermatosis syndrome.", "acronym": "AIPDS.", "accession": "DI-04791", "synonyms": "ORAS.; Otulin-related autoinflammatory syndrome.; Otulipenia.; ", "cross_references": "MeSH; D056660.", "definition": "An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency. ", "keywords": null } ] }