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Showing 8,061-8,080 of 10,888 diseases

glycogen storage disease Id

MONDO:0800302

Rare

1 Trials

Glycogen storage disease Id is a metabolic condition that affects how the body processes and stores glycogen, although many details about its presenta...

glycogen storage disease V

MONDO:0009293

Rare

3 Trials

Glycogen storage disease V, also known as McArdle disease, is a metabolic myopathy that primarily affects skeletal muscles and leads to significant ex...

PYGM

glycogen storage disease VI

MONDO:0009294

Rare

2 Trials

Glycogen storage disease VI, also known as Hers' disease, is a benign form of glycogen storage disorder that primarily affects the liver. It arises fr...

PYGL

glycogen storage disease VII

MONDO:0009295

Rare

2 Trials

Glycogen storage disease VII, also known as Tarui disease, is a rare metabolic disorder that primarily affects the muscles. It is caused by mutations...

PFKM

glycogen storage disease XV

MONDO:0013291

Rare

1 Trials

GYG1

glycogen storage disease due to GLUT2 deficiency

MONDO:0009216

Rare

2 Trials

Glycogen storage disease due to GLUT2 deficiency, also known as Fanconi-Bickel glycogenosis, is a metabolic disorder that primarily affects the liver...

SLC2A2

glycogen storage disease due to acid maltase deficiency, infantile onset

MONDO:0017694

Rare

10 Trials

Glycogen storage disease due to acid maltase deficiency, infantile onset is a severe metabolic condition that primarily affects infants. It is caused...

GAA

glycogen storage disease due to acid maltase deficiency, late-onset

MONDO:0018485

Rare

GAA

glycogen storage disease due to aldolase A deficiency

MONDO:0012747

Rare

1 Trials

ALDOA

glycogen storage disease due to glucose-6-phosphatase deficiency type IA

MONDO:0009287

Rare

1 Trials

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA is a metabolic condition that disrupts the normal breakdown of glycogen due t...

G6PC1

glycogen storage disease due to glycogen branching enzyme deficiency

MONDO:0009292

Rare

1 Trials

Glycogen storage disease due to glycogen branching enzyme deficiency, also known as Andersen Disease or GSD IV, is a severe inherited disorder that af...

GBE1

glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

MONDO:0017701

Rare

glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

MONDO:0017699

Rare

glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

MONDO:0017700

Rare

glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

MONDO:0017698

Rare

glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

MONDO:0017697

Rare

glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

MONDO:0017696

Rare

glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

MONDO:0017695

Rare

glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

MONDO:0013587

Rare

LDHB

glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

MONDO:0013047

Rare

LDHA

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