| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
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| D012007 |
Rectum |
The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL. |
Rectums |
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| D006008 |
Glycogen Storage Disease |
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. |
Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen |
|
| D006011 |
Glycogen Storage Disease Type IV |
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. |
Amylopectinosis,Andersen Disease,Brancher Deficiency,Glycogenosis 4,Andersen's Disease,Deficiency, Brancher,Gbe1 Deficiency,Glycogen Branching Enzyme Deficiency,Glycogen Storage Disease Type 4,Glycogenosis IV,Type IV Glycogenosis,Amylopectinoses,Andersens Disease,Brancher Deficiencies,Deficiencies, Brancher,Deficiencies, Gbe1,Deficiency, Gbe1,Disease, Andersen,Disease, Andersen's,Gbe1 Deficiencies,Glycogenoses, Type IV,Glycogenosis 4s,Glycogenosis IVs,Glycogenosis, Type IV,Type IV Glycogenoses |
|
| D006579 |
Heterozygote |
An individual having different alleles at one or more loci regarding a specific character. |
Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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