| HPO |
HP:0001401 |
Intrahepatic biliary dysgenesis |
— |
— |
HP:0011040 |
| HPO |
HP:0001402 |
Hepatocellular carcinoma |
"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [HPO:probinson] |
Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. |
HP:0002896 |
| HPO |
HP:0001403 |
Macrovesicular hepatic steatosis |
"A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] |
— |
HP:0001397 |
| HPO |
HP:0001404 |
Hepatocellular necrosis |
— |
— |
HP:0002605 |
| HPO |
HP:0001405 |
Periportal fibrosis |
"The presence of fibrosis affecting the interlobular stroma of liver." [HPO:probinson] |
Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. |
HP:0001395 |
| HPO |
HP:0001406 |
Intrahepatic cholestasis |
"Impairment of bile flow due to obstruction in the small bile ducts within the liver." [HPO:probinson] |
— |
HP:0001396, HP:0031865 |
| HPO |
HP:0001407 |
Hepatic cysts |
— |
— |
HP:0006706 |
| HPO |
HP:0001408 |
Bile duct proliferation |
"Proliferative changes of the bile ducts." [HPO:probinson] |
— |
HP:0012440 |
| HPO |
HP:0001409 |
Portal hypertension |
"Increased pressure in the portal vein." [HPO:probinson] |
Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. |
HP:0006707, HP:0032263 |
| HPO |
HP:0001410 |
Decreased liver function |
"Reduced ability of the liver to perform its functions." [HPO:probinson] |
— |
HP:0025155 |
| HPO |
HP:0001412 |
Enteroviral hepatitis |
"Inflammation of the liver due to infection with enterovirus." [PMID:15056237] |
— |
HP:0006562 |
| HPO |
HP:0001413 |
Micronodular cirrhosis |
"A type of cirrhosis characterized by the presence of small regenerative nodules." [HPO:probinson] |
In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. |
HP:0001394 |
| HPO |
HP:0001414 |
Microvesicular hepatic steatosis |
"A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] |
This finding can be demonstrated by liver biopsy. |
HP:0001397 |
| HPO |
HP:0001417 |
X-linked inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
— |
HP:0010985 |
| HPO |
HP:0001419 |
X-linked recessive inheritance |
"A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
— |
HP:0001417 |
| HPO |
HP:0001421 |
Abnormality of the musculature of the hand |
— |
— |
HP:0001155, HP:0001446 |
| HPO |
HP:0001423 |
X-linked dominant inheritance |
"A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
— |
HP:0001417 |
| HPO |
HP:0001425 |
Heterogeneous |
— |
— |
HP:0000005 |
| HPO |
HP:0001426 |
Multifactorial inheritance |
"A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [HPO:probinson] |
The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two. |
HP:0000005 |
| HPO |
HP:0001427 |
Mitochondrial inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0001428 |
Somatic mutation |
"A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation." [] |
This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases. |
HP:0000005 |
| HPO |
HP:0001430 |
Abnormality of the calf musculature |
— |
— |
HP:0001437 |
| HPO |
HP:0001433 |
Hepatosplenomegaly |
"Simultaneous enlargement of the liver and spleen." [HPO:probinson] |
— |
HP:0003271, HP:0025408, HP:0410042 |
| HPO |
HP:0001435 |
Abnormality of the shoulder girdle musculature |
— |
— |
HP:0001446 |
| HPO |
HP:0001436 |
Abnormality of the foot musculature |
"An anomaly of the musculature of foot." [HPO:probinson] |
— |
HP:0001437 |