| 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] |
Show
|
| HP:0000083 | Renal failure | |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000621 | Entropion | "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken] |
Show
|
| HP:0000795 | Abnormality of the urethra | "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:curators] |
Show
|
| HP:0001637 | Abnormality of the myocardium | |
Show
|
| HP:0001645 | Sudden cardiac death | |
Show
|
| HP:0001658 | Myocardial infarction | |
Show
|
| HP:0001733 | Pancreatitis | |
Show
|
| HP:0001824 | Weight loss | |
Show
|
| HP:0001873 | Thrombocytopenia | |
Show
|
| HP:0001874 | Abnormality of neutrophil | |
Show
|
| HP:0001876 | Pancytopenia | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0001945 | Fever | |
Show
|
| HP:0001960 | Hypokalemic metabolic alkalosis | |
Show
|
| HP:0002014 | Diarrhea | |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002017 | Nausea and vomiting | |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002043 | Esophageal stricture | |
Show
|
| HP:0002091 | Restrictive lung disease | |
Show
|
| HP:0002094 | Dyspnea | |
Show
|
| 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] |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002239 | Gastrointestinal hemorrhage | |
Show
|
| HP:0002718 | Recurrent bacterial infections | |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0003781 | Excessive salivation | |
Show
|
| HP:0003829 | Incomplete penetrance | |
Show
|
| HP:0004313 | Reduced immunoglobulin levels | |
Show
|
| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
Show
|
| HP:0008066 | Abnormal blistering of the skin | |
Show
|
| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
Show
|
| HP:0010976 | Reduction in B cell number | "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] |
Show
|
| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
Show
|
| HP:0030016 | Dyspareunia | "Recurrent or persistent genital pain associated with sexual intercourse." [] |
Show
|
| HP:0100518 | Dysuria | "Painful or difficult `urination` (GO:0060073)." [HPO:probinson] |
Show
|
| HP:0100792 | Acantolysis | "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken] |
Show
|
| HP:0100806 | Sepsis | |
Show
|
| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
Show
|
