Immunodeficiency 30

Preferred Label : Immunodeficiency 30;

Symbol : IMD30;

CISMeF acronym : IMD30;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Il12rb1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 12 receptor, beta-1 gene (IL12RB1, 601604.0001);

Prefixed ID : #614891;

Details

Origin ID

614891;

UMLS CUI

C4013949;

Automatic exact mappings (from CISMeF team)
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- IL12RB1-Associated Immunodeficiency [NCIt concept]
- immunodeficiency 30 [DO Concept]
DO Cross reference
- immunodeficiency 30 [DO Concept]
Genes related to phenotype
- Interleukin 12 receptor, beta-1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Immunodeficiency [HPO term]
- Recurrent infections [HPO term]
- Recurrent mycobacterial infections [HPO term]
ORDO concept(s)
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IL12RB1-Associated Immunodeficiency [NCIt concept]
- immunodeficiency 30 [DO Concept]

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