Immunodeficiency 29

Preferred Label : Immunodeficiency 29;

Symbol : IMD29;

CISMeF acronym : IMD29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Il12b deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin-12B gene (IL12B, 161561.0001);

Prefixed ID : #614890;

Details

Origin ID

614890;

UMLS CUI

C4013948;

Automatic exact mappings (from CISMeF team)
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency [ORDO Disease]
- immunodeficiency 29 [DO Concept]
DO Cross reference
- immunodeficiency 29 [DO Concept]
Genes related to phenotype
- Interleukin 12b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- BCGitis [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
ORDO concept(s)
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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