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 DeCS Categories

C04 Neoplasms .
C04.588 Neoplasms by Site .
C04.588.322 Endocrine Gland Neoplasms .
C04.588.322.078 Adrenal Gland Neoplasms .
C04.588.322.078.265 Adrenal Cortex Neoplasms .
C04.588.322.078.265.500 Adrenocortical Adenoma .
C05 Musculoskeletal Diseases .
C05.651 Muscular Diseases .
C05.651.662 Myotonic Disorders .
C05.651.662.500 Myotonia Congenita .
C10 Nervous System Diseases .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.545 Myotonia Congenita .
C10.668 Neuromuscular Diseases .
C10.668.491 Muscular Diseases .
C10.668.491.606 Myotonic Disorders .
C10.668.491.606.500 Myotonia Congenita .
C12 Male Urogenital Diseases .
C12.777 Urologic Diseases .
C12.777.419 Kidney Diseases .
C12.777.419.815 Renal Tubular Transport, Inborn Errors .
C12.777.419.815.364 Dent Disease .
C13 Female Urogenital Diseases and Pregnancy Complications .
C13.351 Female Urogenital Diseases .
C13.351.968 Urologic Diseases .
C13.351.968.419 Kidney Diseases .
C13.351.968.419.815 Renal Tubular Transport, Inborn Errors .
C13.351.968.419.815.364 Dent Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.100 Dent Disease .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.540 Myotonia Congenita .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.449 Glycogen Storage Disease .
C16.320.565.202.449.540 Glycogen Storage Disease Type IV .
C16.320.565.861 Renal Tubular Transport, Inborn Errors .
C16.320.565.861.271 Dent Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.449 Glycogen Storage Disease .
C18.452.648.202.449.540 Glycogen Storage Disease Type IV .
C18.452.648.861 Renal Tubular Transport, Inborn Errors .
C18.452.648.861.271 Dent Disease .
C19 Endocrine System Diseases .
C19.053 Adrenal Gland Diseases .
C19.053.098 Adrenal Cortex Diseases .
C19.053.098.265 Adrenal Cortex Neoplasms .
C19.053.098.265.500 Adrenocortical Adenoma .
C19.053.347 Adrenal Gland Neoplasms .
C19.053.347.500 Adrenal Cortex Neoplasms .
C19.053.347.500.500 Adrenocortical Adenoma .
C19.344 Endocrine Gland Neoplasms .
C19.344.078 Adrenal Gland Neoplasms .
C19.344.078.265 Adrenal Cortex Neoplasms .
C19.344.078.265.500 Adrenocortical Adenoma .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Myotonia Congenita .
Batten Turner Congenital Myopathy .
Batten-Turner Congenital Myopathy .
Becker Disease .
Congenital Myotonia .
Generalized Myotonia of Becker .
Generalized Myotonia of Thomsen .
Myopathy, Congenital .
Myotonia Congenita, Autosomal Dominant .
Myotonia Congenita, Autosomal Recessive .
Myotonia Levior .
Myotonia, Generalized .
Thomsen's Disease .
Thomsens Disease .
Disease, Becker .
Disease, Thomsen .
Disease, Thomsen's .
Disease, Thomsens .
Generalized Myotonia .
Generalized Myotonia, Becker .
Generalized Myotonias .
Myotonia, Becker Generalized .
Myotonias, Generalized .
Thomsen Generalized Myotonia .
Thomsen Disease .
Becker Generalized Myotonia .
Myotonia, Generalized, Becker .
THOMSEN'S DISEASE .
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders. .
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14753
 
Glycogen Storage Disease Type IV .
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 .
Amylopectinosis .
Andersen Disease .
Brancher Deficiency .
Glycogenosis 4 .
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. .
0.59
 
Dent Disease .
Dents Disease .
Disease, Dent .
Disease, Dent's .
Disease, Dents .
Dent's Disease .
X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. .
0.58
252
 
Adrenocortical Adenoma .
Adenoma, Adrenocortical .
Conn Adenoma .
Conn Disease .
Adenoma, Conn .
Adenomas, Adrenal Cortical .
Adenomas, Adrenocortical .
Adenomas, Conn .
Adrenal Cortical Adenoma .
Adrenal Cortical Adenomas .
Adrenocortical Adenomas .
Conn Adenomas .
Conns Disease .
Disease, Conn .
Disease, Conn's .
Adenoma, Adrenal Cortical .
Conn's Disease .
A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. .
0.58
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