| 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:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
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| HP:0000572 | Visual loss | |
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| HP:0000585 | Band keratopathy | "An `abnormality of the cornea` (HP:0000481) characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson] |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000610 | Abnormality of the choroid | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0000958 | Dry skin | |
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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:0000988 | Skin rash | |
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| HP:0001094 | Iridocyclitis | |
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| HP:0001101 | Iritis | |
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| HP:0001291 | Abnormality of the cranial nerves | "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] |
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| HP:0001369 | Arthritis | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001386 | Joint swelling | |
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| HP:0001392 | Abnormality of the liver | |
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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:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002094 | Dyspnea | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002829 | Arthralgia | |
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| HP:0003774 | End stage renal disease | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0005310 | Small and large vessel vasculitis | |
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| HP:0005764 | Polyarticular arthritis | |
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| HP:0005830 | Partial flexion contractures of fingers and toes | |
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| HP:0006770 | Sporadic, nonpapillary renal cell carcinoma | |
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| HP:0007432 | Intermittent generalized erythematous papular rash | |
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| HP:0007813 | Nongranulomatous uveitis | |
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| HP:0008046 | Abnormality of the retinal vasculature | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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| HP:0010286 | Abnormality of the salivary glands | "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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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:0011505 | Cystoid macular edema | "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter] |
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| HP:0012123 | Posterior uveitis | "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson] |
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| HP:0012219 | Erythema nodosum | "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [HPO:probinson] |
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| HP:0025230 | Tendonitis | "Inflammation of a tendon." [] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100654 | Retrobulbar optic neuritis | "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyebal." [HPO:sdoelken] |
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| HP:0100769 | Synovitis | |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [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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