Immunodeficiency 94 with autoinflammation and dysmorphic facies

Preferred Label : Immunodeficiency 94 with autoinflammation and dysmorphic facies;

Symbol : IMD94;

Type : Phenotype, molecular basis known;

Prefixed ID : #619750;

Details

Origin ID

619750;

UMLS CUI

C5676918;

Genes related to phenotype
- Interleukin 6 cytokine family signal transducer [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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