| HP:0000100 | Nephrotic syndrome | |
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| HP:0000246 | Sinusitis | |
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| HP:0000388 | Otitis media | |
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| HP:0000778 | Thymus hypoplasia | "Underdevelopment of the thymus." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000958 | Dry skin | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| HP:0000988 | Skin rash | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001019 | Erythroderma | "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
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| HP:0001072 | Thickened skin | |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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| HP:0002028 | Chronic diarrhea | |
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| HP:0002090 | Pneumonia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002837 | Bronchitis | |
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| HP:0002841 | Fungal infections, recurrent | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0004315 | Decreased IgG level | "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson] |
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| HP:0004332 | Abnormality of lymphocytes | |
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| HP:0004430 | Severe combined immunodeficiency | "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators] |
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| HP:0004432 | Agammaglobulinemia | |
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| HP:0005387 | Combined immunodeficiency | |
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| HP:0005407 | Decreased number of CD4+ T cells | |
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| HP:0005415 | Decreased number of CD8+ T cells | |
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| HP:0007274 | Recurrent bacterial meningitis | |
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| HP:0007549 | Desquamation of skin soon after birth | |
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| HP:0009098 | Chronic oral candidiasis | |
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| HP:0100646 | Thyroiditis | "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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