| 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:0000024 | Prostatitis | |
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| HP:0000071 | Ureteral stenosis | |
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| HP:0000083 | Renal failure | |
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| HP:0000093 | Proteinuria | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000163 | Abnormality of the oral cavity | "Abnormality of the opening or hollow part of the mouth." [HPO:curators] |
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| HP:0000246 | Sinusitis | |
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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:0000421 | Epistaxis | |
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| HP:0000488 | Retinopathy | |
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| HP:0000492 | Abnormality of the eyelid | |
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| HP:0000505 | Impaired vision | |
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| HP:0000520 | Proptosis | |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
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| HP:0000873 | Diabetes insipidus | "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [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: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:0000979 | Purpura | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0000988 | Skin rash | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001019 | Erythroderma | "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
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| HP:0001029 | Poikiloderma | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001287 | Meningitis | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001681 | Angina pectoris | |
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| HP:0001701 | Pericarditis | |
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| HP:0001733 | Pancreatitis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001890 | Autoimmune hemolytic anemia | |
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| HP:0001945 | Fever | |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002014 | Diarrhea | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002102 | Pleuritis | "Inflammation of the pleura." [HPO:sdoelken] |
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| HP:0002103 | Abnormality of the pleura | "An abnormality of the pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:curators] |
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| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002633 | Vasculitis | |
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| HP:0002637 | Cerebral ischemia | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002829 | Arthralgia | |
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| HP:0002955 | Tissue biopsy shows granulomas | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003565 | Elevated erythrocyte sedimentation rate | |
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| HP:0003765 | Psoriasis | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004313 | Reduced immunoglobulin levels | |
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| HP:0004332 | Abnormality of lymphocytes | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005561 | Generalized abnormality of the bone marrow | |
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| HP:0006510 | Chronic obstructive pulmonary disease | |
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| HP:0006535 | Recurrent intrapulmonary hemorrhage | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0008404 | Nail dystrophy, variable | |
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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:0010701 | Abnormal immunoglobulin level | "An abnormal deviation from normal levels of immunoglobulins in blood." [HPO:probinson] |
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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:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0012192 | Cutaneous T-cell lymphoma | "A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [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:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0100533 | Inflammatory abnormality of the eye | "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] |
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| HP:0100539 | Periorbital edema | |
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| HP:0100725 | Lichenification | "Thickening and hardenining of the epidermis seen with exaggeration of normal skin lines." [HPO:probinson] |
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| HP:0100749 | Chest pain | |
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| HP:0100758 | Gangrene | "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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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:0200035 | skin plaques | "A broad papule, or confluence of papules equal to or greater than 10 mm. Has also been defined as an elevated, plateau-like lesion that is greater in its diameter than in its depth." [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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