| 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:0000083 | Renal failure | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000105 | Enlarged kidneys | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001541 | Ascites | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001994 | Renal Fanconi syndrome | |
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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:0002590 | Paralytic ileus | |
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| HP:0002909 | Generalized aminoaciduria | |
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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:0003163 | Elevated urinary delta-aminolevulinic acid | |
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| HP:0003231 | Tyrosinemia | |
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| HP:0003235 | Hypermethioninemia | |
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| HP:0003768 | Periodic paralysis | |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0004510 | Islets of Langerhans hyperplasia | |
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| HP:0004912 | hypophosphatemic rickets | |
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| HP:0006254 | Elevated alpha-fetoprotein | "An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalaocele." [HPO:curators] |
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| HP:0006463 | Rickets of the lower limbs | |
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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:0006949 | Episodic peripheral neuropathy | |
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