| 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:0001425 |
Heterogeneous |
— |
— |
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:0006572 |
Subacute progressive viral hepatitis |
— |
— |
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:0001395 |
Hepatic fibrosis |
"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [HPO:probinson] |
— |
HP:0410042 |
| HPO |
HP:0006254 |
Elevated alpha-fetoprotein |
"An increased concentration of alpha-fetoprotein." [HPO:gcarletti] |
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 omphalocele. |
HP:0045056 |
| HPO |
HP:0002013 |
Vomiting |
"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] |
— |
HP:0002017 |
| HPO |
HP:0410019 |
Epigastric pain |
"Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, ORCID:0000-0001-5208-3432] |
— |
HP:0012531 |
| HPO |
HP:0030242 |
Portal vein thrombosis |
"Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins." [HPO:probinson, PMID:21960890] |
Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. |
HP:0030247 |
| HPO |
HP:0002605 |
Hepatic necrosis |
"The presence of cell death (necrosis) affecting the liver." [HPO:probinson] |
— |
HP:0410042 |
| HPO |
HP:0002027 |
Abdominal pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [HPO:probinson] |
Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. |
HP:0011458, HP:0012531 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| HPO |
HP:0012378 |
Fatigue |
"A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Fatigue is distinct from muscle weakness. |
HP:0025142 |
| HPO |
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] |
— |
HP:0000005 |
| HPO |
HP:0003829 |
Incomplete penetrance |
"A situation in which mutation carriers do not show clinically evident phenotypic abnormalities." [HPO:probinson] |
This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. |
HP:0003812 |
| 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:0006766 |
Papillary renal cell carcinoma |
"The presence of renal cell carcinoma in the renal papilla." [HPO:probinson] |
— |
HP:0005584 |
| HPO |
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000407 |
Sensorineural hearing impairment |
"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] |
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). |
HP:0000365, HP:0011389 |
| HPO |
HP:0003038 |
Fibular hypoplasia |
"Underdevelopment of the fibula." [HPO:probinson] |
— |
HP:0003026, HP:0006492 |
| HPO |
HP:0000767 |
Pectus excavatum |
"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:probinson] |
— |
HP:0000766 |
| HPO |
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] |
— |
HP:0000005 |
| HPO |
HP:0005864 |
Pseudoarthrosis |
"A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [HPO:probinson] |
— |
HP:0011314 |
| OMIM |
OMIM:605074 |
RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 |
— |
— |
— |