From HPO
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Decreased liver function- MedGen UID:
- 65430
- •Concept ID:
- C0232744
- •
- Finding
Reduced ability of the liver to perform its functions.
Hepatic fibrosis- MedGen UID:
- 116093
- •Concept ID:
- C0239946
- •
- Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Copper accumulation in liver- MedGen UID:
- 910570
- •Concept ID:
- C3672035
- •
- Finding
An anomalous build up of copper (Cu) in the liver.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Hypercholesterolemia- MedGen UID:
- 5687
- •Concept ID:
- C0020443
- •
- Disease or Syndrome
An increased concentration of cholesterol in the blood.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Decreased circulating ceruloplasmin concentration- MedGen UID:
- 472980
- •Concept ID:
- C0240997
- •
- Finding
Decreased concentration of ceruloplasmin in the blood.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Decreased circulating copper concentration- MedGen UID:
- 488831
- •Concept ID:
- C0268070
- •
- Disease or Syndrome
A reduced concentration of copper in the blood.
Increased LDL cholesterol concentration- MedGen UID:
- 154289
- •Concept ID:
- C0549399
- •
- Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
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.
Type II transferrin isoform profile- MedGen UID:
- 892666
- •Concept ID:
- C4021094
- •
- Finding
Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.
Abnormal protein O-linked glycosylation- MedGen UID:
- 868534
- •Concept ID:
- C4022933
- •
- Anatomical Abnormality
An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.
Abnormal protein N-linked glycosylation- MedGen UID:
- 868545
- •Concept ID:
- C4022944
- •
- Finding
An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system