Immunodeficiency 46

Preferred Label : Immunodeficiency 46;

Symbol : IMD46;

CISMeF acronym : IMD46;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transferrin receptor gene (TFRC, 190010.0001);

Prefixed ID : #616740;

Details

Origin ID

616740;

UMLS CUI

C5568133;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to TFRC deficiency [ORDO Disease]
- immunodeficiency 46 [DO Concept]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to transferrin receptor deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- immunodeficiency 46 [DO Concept]
Genes related to phenotype
- Transferrin receptor [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Chronic oral candidiasis [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating antibody level [HPO term]
- Failure to thrive [HPO term]
- Immunodeficiency [HPO term]
- Intermittent thrombocytopenia [HPO term]
- Meningitis [HPO term]
- Neutropenia [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Sepsis [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to TFRC deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to transferrin receptor deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 46 [DO Concept]

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