Immunodeficiency 108 with autoinflammation

Preferred Label : Immunodeficiency 108 with autoinflammation;

Symbol : IMD108;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pelger-huet-like anomaly and episodic fever with abdominal pain;

Inheritance : Autosomal recessive;

Prefixed ID : #260570;

Details

Origin ID

260570;

UMLS CUI

C1850054;

Currated CISMeF NLP mapping
- Pelger-Huet-Like anomaly and episodic fever with abdominal pain [MeSH concept]
- Pelger-Huet-Like anomaly and episodic fever with abdominal pain [MeSH Supplementary Concept]
Genes related to phenotype
- Ccaat/enhancer-binding protein, epsilon [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormality of blood and blood-forming tissues [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fever [HPO term]
- Recurrent fever [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelger-Huet-Like anomaly and episodic fever with abdominal pain [MeSH Supplementary Concept]
- Pelger-Huet-Like anomaly and episodic fever with abdominal pain [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients