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Results: 9

1.

Frameshift Mutation function

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. [from MeSH]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
2.

Glycogen phosphorylase kinase deficiency

Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth retardation, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). Symptoms and biochemical abnormalities of liver PhK deficiency are thought to improve with age. [from GeneReviews]

MedGen UID:
468559
Concept ID:
C0268147
Disease or Syndrome
3.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI]

MedGen UID:
5539
Concept ID:
C0019409
4.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
5.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
6.

Anomaly of sex chromosome

Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. [from MeSH]

MedGen UID:
19948
Concept ID:
C0036868
Disease or Syndrome
7.

Chromosome Aberrations

irregularity in the number or structure of chromosomes that may alter the course of development. [from CRISP]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
8.

Deficiency of phosphorylase kinase

MedGen UID:
713696
Concept ID:
C1291390
Disease or Syndrome
9.

Glycogen phosphorylase kinase deficiency, X-linked

MedGen UID:
657817
Concept ID:
C0574104
Disease or Syndrome

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