| 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:0000093 | Proteinuria | |
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| HP:0000124 | Renal tubular dysfunction | |
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| HP:0000140 | Menstrual abnormalities | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000751 | Personality changes | |
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| HP:0000787 | Kidney stones | |
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| HP:0000829 | Hypoparathyroidism | |
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| HP:0000934 | Chondrocalcinosis | |
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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:0000978 | Ecchymoses | |
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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:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001259 | Coma | |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001369 | Arthritis | |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0001386 | Joint swelling | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001508 | Failure to thrive | |
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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:0001873 | Thrombocytopenia | |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001903 | Anemia | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002040 | Esophageal varices | |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002275 | Poor motor coordination | |
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| HP:0002307 | Drooling | |
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| HP:0002312 | Clumsiness | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002653 | Bone pain | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002829 | Arthralgia | |
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| 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] |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003418 | Back pain | |
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| HP:0004324 | Increased body weight | |
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| 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] |
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| HP:0007327 | Mixed demyelinating and axonal polyneuropathy | |
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| HP:0008994 | Proximal muscle weakness in lower limbs | "A lack of strength of the proximal muscles of the legs." [HPO:curators] |
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| HP:0010838 | High nonceruloplasmin-bound serum copper | "An `increased concentration` (PATO:0001162) of non `ceruloplasmin` (PR:000005794) bound `copper` (CHEBI:28694) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0030214 | Hypersexuality | "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others." [ICM:PCaroppo] |
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| HP:0200032 | Kayser-Fleischer ring | "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea." [HPO:SKOEHLER] |
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| HP:0200119 | Acute hepatitis | |
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| HP:0200122 | Atypical or prolonged hepatitis | |
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