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Items: 14

1.

Abetalipoproteinaemia

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from OMIM]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
2.

Abnormality of pyrimidine metabolism

An abnormality of a pyrimidine base metabolic process. [from HPO]

MedGen UID:
870884
Concept ID:
C4025345
Finding
3.

Abnormality of carboxylic acid metabolism

An abnormality of the metabolism of a carboxylic acid. [from HPO]

MedGen UID:
870883
Concept ID:
C4025344
Finding
4.

Abnormality of glycoprotein metabolism

An abnormality of a glycoprotein metabolic process. [from HPO]

MedGen UID:
870872
Concept ID:
C4025333
Finding
5.

Abnormality of threonine metabolism

Abnormality of a threonine metabolic process. [from HPO]

MedGen UID:
869243
Concept ID:
C4023666
Finding
6.

Abnormality of tyrosine metabolism

An abnormality of a tyrosine metabolic process. [from HPO]

MedGen UID:
869230
Concept ID:
C4023653
Finding
7.

Abnormality of serine metabolism

An abnormality of a serine metabolism. [from HPO]

MedGen UID:
868573
Concept ID:
C4022972
Finding
8.

Abnormality of serine metabolism

An abnormality of a serine metabolism. [from HPO]

MedGen UID:
489889
Concept ID:
CN168798
Finding
9.

Abnormality of the cell cycle

An abnormality of the cell cycle. [from HPO]

MedGen UID:
451289
Concept ID:
CN116750
Finding
10.

Abnormality of tyrosine metabolism

An abnormality of a tyrosine metabolic process. [from HPO]

MedGen UID:
451209
Concept ID:
CN116650
Finding
11.

Abnormality of threonine metabolism

Abnormality of a threonine metabolic process. [from HPO]

MedGen UID:
451195
Concept ID:
CN116633
Finding
12.

Abnormality of carboxylic acid metabolism

An abnormality of the metabolism of a carboxylic acid. [from HPO]

MedGen UID:
428455
Concept ID:
CN003853
Finding
13.

Abnormality of pyrimidine metabolism

An abnormality of a pyrimidine base metabolic process. [from HPO]

MedGen UID:
428454
Concept ID:
CN003852
Finding
14.

Abnormality of glycoprotein metabolism

An abnormality of a glycoprotein metabolic process. [from HPO]

MedGen UID:
428078
Concept ID:
CN003866
Finding
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