Immunodeficiency 50

Preferred Label : Immunodeficiency 50;

Symbol : IMD50;

CISMeF acronym : IMD50;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 50, X-linked recessive;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the moesin gene (MSN, 309845.0001);

Prefixed ID : #300988;

Details

Origin ID

300988;

UMLS CUI

C5568123;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to Moesin deficiency [ORDO Disease]
- immunodeficiency 50 [DO Concept]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to moesin deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- immunodeficiency 50 [DO Concept]
Genes related to phenotype
- Moesin [OMIM gene]
HPO term(s)
- Decreased circulating antibody level [HPO term]
- Eczema [HPO term]
- Lymphopenia [HPO term]
- Neutropenia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to Moesin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to moesin deficiency (disorder) [SNOMED CT concept]

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