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autosomal recessive congenital ichthyosis 4B
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DOID_0060713 |
[An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.] |
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autosomal recessive congenital ichthyosis 5
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DOID_0060714 |
[An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.] |
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stomach diverticulosis
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DOID_4370 |
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intracranial embolism
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DOID_4372 |
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Entamoeba histolytica
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NCBITaxon_5759 |
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Entamoeba
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NCBITaxon_5758 |
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Schnitzler syndrome
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DOID_4371 |
[A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy.] |
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hypersensitivity reaction type IV disease
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DOID_2916 |
[A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.] |
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Entamoebidae
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NCBITaxon_33084 |
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Silo filler's disease
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DOID_4374 |
[A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans.] |
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obsolete agricultural workers' disease
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DOID_4375 |
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peanut allergy
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DOID_4378 |
[A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.] |
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legume allergy
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DOID_0060904 |
[A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.] |
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Wissler-Fanconi syndrome
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DOID_3047 |
[A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease.] |
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nut allergy
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DOID_4379 |
[A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.] |
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Churg-Strauss syndrome
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DOID_3049 |
[A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.] |
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lymphoproliferative syndrome
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DOID_0060704 |
[A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.] |
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X-linked lymphoproliferative syndrome 1
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DOID_0060705 |
[A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.] |
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X-linked lymphoproliferative syndrome 2
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DOID_0060706 |
[A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.] |
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lymphoproliferative syndrome 1
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DOID_0060707 |
[A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.] |