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X-Linked Congenital Myopathy With Fiber-Type Disproportion

Disease ID: disease_node_18959

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Dbxref	MIM:300580
Subclassof	DOID_0080102
Data Source	DOID
Synonyms	CFTDX
Doid Label	X-linked congenital myopathy with fiber-type disproportion
Doid Description	A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1.
Has Symptom	SYMP_0000369, SYMP_0000706
Disease Node Id	disease_node_18959
Doid Id	DOID_0111226
Disease Has Basis In	HP_0001197
Label	X-Linked Congenital Myopathy With Fiber-Type Disproportion

Outgoing r'ship HAS_SYMPTOM to/from Blepharoptosis(ID:disease_node_1612) (Disease)
Outgoing r'ship HAS_SYMPTOM to/from Facial Weakness(ID:disease_node_21648) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Congenital Myopathy 4A(ID:disease_node_18958) (Disease)

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