Thrombocytopenia 12 with or without myopathy

Preferred Label : Thrombocytopenia 12 with or without myopathy;

Symbol : THC12;

Type : Phenotype, molecular basis known;

Prefixed ID : #620757;

Details

Origin ID

620757;

UMLS CUI

C5935593;

Genes related to phenotype
- Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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