| 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:0000230 | Gingivitis | |
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| HP:0000246 | Sinusitis | |
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| HP:0000388 | Otitis media | |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0000976 | Eczematoid dermatitis | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001287 | Meningitis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001945 | Fever | |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002024 | Malabsorption | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002723 | Absence of bactericidal oxidative respiratory burst in phagocytes | |
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| HP:0002724 | Aspergillus infections | |
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| HP:0002726 | Staphylococcus aureus infections | |
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| HP:0002740 | E. coli infections | |
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| HP:0002741 | Serratia marcescens infections | |
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| HP:0002742 | Klebsiella infections | |
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| HP:0002754 | Osteomyelitis | |
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| HP:0002840 | Lymphadenitis | |
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| HP:0002842 | Burkholderia cepacia infections | |
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| HP:0002955 | Tissue biopsy shows granulomas | |
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| HP:0003203 | Negative nitroblue tetrazolium (NBT) reduction test | |
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| HP:0003206 | Decreased activity of NADPH oxidase | |
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| HP:0003621 | Juvenile onset | |
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| HP:0005224 | Rectal abscess | |
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| HP:0005406 | Recurrent bacterial skin infections | |
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| HP:0006510 | Chronic obstructive pulmonary disease | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0007417 | Discoid lupus erythematosus | |
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| HP:0100523 | Liver abscess | "The presence of an `abscess` (MPATH:608) of the `liver` (FMA:7197)." [HPO:probinson] |
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| HP:0100533 | Inflammatory abnormality of the eye | "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] |
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| HP:0100658 | Cellulitis | |
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| HP:0100721 | Mediastinal lymphadenopathy | |
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| HP:0100806 | Sepsis | |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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