| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000979 | Purpura | |
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| HP:0001287 | Meningitis | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001888 | Lymphopenia | |
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| HP:0001904 | Autoimmune neutropenia | |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0002014 | Diarrhea | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002090 | Pneumonia | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002097 | Emphysema | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002633 | Vasculitis | |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [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:0002720 | Decreased IgA | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002829 | Arthralgia | |
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| HP:0002837 | Bronchitis | |
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| HP:0002850 | Decreased IgM | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0002960 | Autoimmune disease | |
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| HP:0004313 | Reduced immunoglobulin levels | |
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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:0005435 | Impaired T cell function | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006783 | Posterior pharyngeal cleft | |
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| HP:0010976 | Reduction in B cell number | "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] |
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| HP:0011108 | Recurrent sinusitis | "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0100723 | Gastrointestinal stroma tumor | |
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