| 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:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| HP:0000978 | Ecchymoses | |
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| HP:0000988 | Skin rash | |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001055 | Erysipelas | |
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| HP:0001369 | Arthritis | |
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| HP:0001637 | Abnormality of the myocardium | |
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| HP:0001701 | Pericarditis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002019 | Constipation | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002076 | Migraine | |
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| HP:0002102 | Pleuritis | "Inflammation of the pleura." [HPO:sdoelken] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002586 | Peritonitis | |
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| HP:0002633 | Vasculitis | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002829 | Arthralgia | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003565 | Elevated erythrocyte sedimentation rate | |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0011034 | Amyloidosis | "The presence of `amyloid deposition` (MPATH:34) in one or more tissues. Amyloidosis may be defined as the exrtracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326] |
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| HP:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] |
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| HP:0012280 | Hepatic amyloidosis | "A form of `amyloidosis` (HP:0011034) that affects the liver." [HPO:probinson] |
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| HP:0030953 | Conjunctival hyperemia | "Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera." [] |
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| HP:0100537 | Fasciitis | "`Inflammation` (MPATH:212) of `fascia` (FMA:30318)." [HPO:probinson] |
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| HP:0100539 | Periorbital edema | |
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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:0100658 | Cellulitis | |
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| HP:0100749 | Chest pain | |
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| HP:0100776 | Recurrent pharyngitis | "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] |
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| HP:0100781 | Abnormality of the sacroiliac joint | |
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| HP:0100796 | Orchitis | "Testicular inflammation." [HPO:sdoelken] |
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