| 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:0000093 | Proteinuria | |
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| HP:0000999 | Pyoderma | |
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| HP:0001061 | Acne | |
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| HP:0001369 | Arthritis | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001945 | Fever | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002829 | Arthralgia | |
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| HP:0010702 | Increased immunoglobulin level | "An abnormally increased level of immunoglobulin in blood." [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:0025452 | Pyoderma gangrenosum | "A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat s paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer." [PMID:16858047] |
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| HP:0100280 | Crohn s disease | "A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn s disease is thought to be an autoimmune disease, in which the body s immune system attacks the gastrointestinal tract, causing inflammation." [HPO:sdoelken] |
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| HP:0100614 | Myositis | "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] |
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| HP:0100651 | Diabetes mellitus Type I | |
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| HP:0200039 | skin pustule | "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] |
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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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