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Term:
congenital myopathy
(DOID:0081337)
Annotations:
Rat: (248)
Mouse: (252)
Human: (334)
Chinchilla: (240)
Bonobo: (247)
Dog: (250)
Squirrel: (246)
Pig: (247)
Naked Mole-rat: (240)
Green Monkey: (246)
Parent Terms
Term With Siblings
Child Terms
myopathy
+
Alcohol Myopathy
congenital myopathy
+
A myopathy that is characterized by hypotonia and weakness, usually present from birth. (DO)
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
King Denborough syndrome
mitochondrial myopathy
+
Multiple Epiphyseal Dysplasia with Myopathy
muscular atrophy
+
muscular dystrophy
+
Myoectodermal Gonadal Dysgenesis Syndrome
myofascial pain syndrome
+
myofibrillar myopathy
+
myoglobinuria
+
Myopathy due to Malate-Aspartate Shuttle Defect
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
myopathy of extraocular muscle
+
myopathy with extrapyramidal signs
Myopathy with Giant Abnormal Mitochondria
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 2
Myopathy, Cataract, Hypogonadism Syndrome
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
myositis
+
Myostitis
neurogenic scapuloperoneal syndrome Kaeser type
Neutral Lipid Storage Disease with Myopathy
Oculopharyngeal Myopathy with Leukoencephalopathy 1
polymyalgia rheumatica
Reducing Body Myopathies
+
rhabdomyolysis-myalgia syndrome
Sarcoplasmic Body Myopathy
Secretory Diarrhea, Myopathy, and Deafness
Tubular Aggregate Myopathies
+
X-linked myopathy with excessive autophagy
Compton-North congenital myopathy
congenital myopathy 10B
Congenital Myopathy 11
congenital myopathy 14
congenital myopathy 15
congenital myopathy 16
congenital myopathy 17
congenital myopathy 18
congenital myopathy 19
congenital myopathy 1A
+
congenital myopathy 1B
congenital myopathy 20
congenital myopathy 21
congenital myopathy 22A
congenital myopathy 22B
Congenital myopathy 25
congenital myopathy 2B
congenital myopathy 2C
congenital myopathy 4A
+
congenital myopathy 5
congenital myopathy 6
congenital myopathy 8
congenital myopathy 9A
congenital myopathy 9B
Congenital Myopathy with Excess of Muscle Spindles
congenital structural myopathy
+
cylindrical spirals myopathy
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
hyaline body myopathy
+
myotonia congenita
+
Native American myopathy
nemaline myopathy
+
Synonyms
Exact Synonyms:
Batten Turner congenital myopathy
Alternate IDs:
DOID:0080100
Xrefs:
MIM:PS117000
Definition Sources:
https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z
"DO" "DO"