| 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:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000140 | Menstrual abnormalities | |
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| HP:0000225 | Gingival bleeding | |
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| HP:0000246 | Sinusitis | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000421 | Epistaxis | |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000778 | Thymus hypoplasia | "Underdevelopment of the thymus." [HPO:curators] |
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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:0000967 | Petechiae | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001025 | Urticaria | |
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| HP:0001287 | Meningitis | |
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| HP:0001328 | Learning disability | |
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| HP:0001369 | Arthritis | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001879 | Abnormality of eosinophils | |
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| HP:0001888 | Lymphopenia | |
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| HP:0001935 | Microcytic anemia | |
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| HP:0001945 | Fever | |
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| HP:0002028 | Chronic diarrhea | |
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| HP:0002037 | Inflammatory bowel disease | |
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| HP:0002094 | Dyspnea | |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002248 | Hematemesis | |
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| HP:0002488 | Acute leukemia | |
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| HP:0002573 | Hematochezia | |
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| HP:0002633 | Vasculitis | |
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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:0002719 | Recurrent infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0005415 | Decreased number of CD8+ T cells | |
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| HP:0005558 | Chronic leukemia | |
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| HP:0006510 | Chronic obstructive pulmonary disease | |
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| HP:0006535 | Recurrent intrapulmonary hemorrhage | |
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| HP:0007420 | Spontaneous hematomas | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0011869 | Abnormal platelet function | "Any anomaly in the function of thrombocytes." [HPO:probinson] |
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| HP:0011875 | Abnormal platelet morphology | "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] |
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| HP:0012178 | Reduced natural killer cell activity | "Reduced ability of the `natural killer cell` (CL:0000623) to function in the adaptive immune response." [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:0030253 | Defective T cell proliferation | "A reduced ability of a T cell population to expand by cell division following T cell activation." [HPO:probinson] |
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| HP:0100749 | Chest pain | |
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| HP:0100774 | Hyperostosis | "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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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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