DiseaseID 26362

强直性肌营养不良2型

Myotonic Dystrophy 2

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Disease: 1Symptom: 5Target: 7Links: 12

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Record Fields

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Disease Id: 26362
Core Entity Id: 118930
Source Entity Count: 1
Preferred Name: Myotonic Dystrophy 2
Name Cn: 强直性肌营养不良2型
Name Pinyin: Qiang Zhi Xing Ji Ying Yang Bu Liang 2 Xing
Name En: Myotonic Dystrophy 2
Name Latin
Bilingual Status: complete
Disease Type
Umls Disease Type
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Disease Definition: SNOMEDCT_US_2016_09_01:A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).|SNOMEDCT_US_2016_09_01:A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).|NCI2016_02D:A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.
Version: v1,v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Myotonic Dystrophy 2

Role

preferred

Source

SymMap_v2

Preferred

Yes

Cross References

Trusted external identifiers retained for this final record.

Icd10

G71.11

Sym Map

SMDE03117

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2

Suppress

Disease Definition

SNOMEDCT_US_2016_09_01:A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).|SNOMEDCT_US_2016_09_01:A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).|NCI2016_02D:A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.