Bethlem myopathy 1b - CISMeF

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CISMeF

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Bethlem myopathy 1bOMIM Phenotype

Preferred Label : Bethlem myopathy 1b;

Symbol : BTHLM1B;

Type : Phenotype, molecular basis known;

Prefixed ID : #620725;

Details

Origin ID

620725;

UMLS CUI

C5935580;

Genes related to phenotype
- Collagen, type VI, alpha-2 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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03/05/2025

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