| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000155 | Oral ulcers | |
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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: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: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:0001873 | Thrombocytopenia | |
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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:0002014 | Diarrhea | |
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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:0002718 | Recurrent bacterial infections | |
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| HP:0002732 | Small lymph nodes | |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002841 | Fungal infections, recurrent | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003075 | Hypoproteinemia | |
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| HP:0003139 | Panhypogammaglobulinemia | |
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| HP:0003249 | Genital ulcers | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004332 | Abnormality of lymphocytes | |
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| HP:0004429 | Recurrent viral infections | |
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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:0005359 | Absent or small dysplastic thymus | |
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| HP:0005365 | Absent peripheral blood B cells | |
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| HP:0007549 | Desquamation of skin soon after birth | |
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| HP:0030813 | Absent tonsils | "Lack of observable tonsillar tissue." [] {comment="HPO:probinson"} |
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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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