| HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000024 | Prostatitis | |
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| HP:0000031 | Epididymitis | "Inflammation of the epididymis." [HPO:curators] |
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| HP:0000162 | Glossoptosis | |
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| HP:0000246 | Sinusitis | |
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| HP:0000365 | Hearing loss | |
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| HP:0000388 | Otitis media | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000750 | Impaired language development | |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000988 | Skin rash | |
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| HP:0000999 | Pyoderma | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001287 | Meningitis | |
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| HP:0001369 | Arthritis | |
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| HP:0001412 | Enteroviral hepatitis | |
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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:0001648 | Cor pulmonale | |
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| HP:0001824 | Weight loss | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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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:0002024 | Malabsorption | |
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| HP:0002028 | Chronic diarrhea | |
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| HP:0002090 | Pneumonia | |
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| HP:0002383 | Encephalitis | |
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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:0002718 | Recurrent bacterial infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002732 | Small lymph nodes | |
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| HP:0002743 | Severe enteroviral infections | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002754 | Osteomyelitis | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003095 | Septic arthritis | |
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| HP:0003139 | Panhypogammaglobulinemia | |
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| HP:0003729 | Enteroviral dermatomyositis syndrome | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004432 | Agammaglobulinemia | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0100658 | Cellulitis | |
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| HP:0100765 | Abnormality of the tonsils | "An abnormality of the `tonsils` (FMA:9609)." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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| HP:0100838 | Recurrent cutaneous abscess formation | "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson] |
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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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