| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0001080 | Biliary tract abnormality | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001875 | Neutropenia | |
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| HP:0002024 | Malabsorption | |
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| HP:0002383 | Encephalitis | |
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| HP:0002583 | Severe colitis | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002728 | Chronic mucocutaneous candidiasis | |
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| HP:0002783 | Recurrent lower respiratory tract infections | |
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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:0002965 | Cutaneous anergy | |
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| HP:0003139 | Panhypogammaglobulinemia | |
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| HP:0004385 | Protracted diarrhea | |
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| HP:0004429 | Recurrent viral infections | |
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| HP:0004432 | Agammaglobulinemia | |
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| HP:0005386 | Frequent bacterial, viral, protozoan, and fungal infections | |
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| HP:0006562 | Viral hepatitis | |
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| HP:0007041 | Chronic lymphocytic meningitis | |
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| HP:0011473 | Villous atrophy | "The enteric villi are atrophic or absent." [HPO:probinson] |
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