| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000820 | Abnormality of the thyroid gland | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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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:0001262 | Somnolence | |
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| HP:0001278 | Orthostatic hypotension | "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001395 | Hepatic fibrosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001541 | Ascites | |
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| HP:0002608 | Celiac disease | |
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| HP:0002613 | Biliary cirrhosis | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002908 | Conjugated hyperbilirubinemia | |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| HP:0003119 | Abnormality of lipid metabolism | |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003261 | Increased IgA level | "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson] |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003493 | Antinuclear antibody positive | |
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| HP:0003496 | Increased IgM level | "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson] |
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| HP:0004386 | Gastrointestinal inflammatory disorder | |
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| HP:0011040 | Abnormality of the intrahepatic bile duct | "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson] |
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| HP:0011274 | Recurrent mycobacterial infections | "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] |
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| HP:0011971 | Dermatographic urticaria | "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson] |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0012203 | Onychomycosis | "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [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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