Immunodeficiency 12

Preferred Label : Immunodeficiency 12;

Symbol : IMD12;

CISMeF acronym : IMD12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1, 604860.0001);

Prefixed ID : #615468;

Details

Origin ID

615468;

UMLS CUI

C3809583;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to MALT1 deficiency [ORDO Disease]
- MALT1 wt Allele [NCIt concept]
- immunodeficiency 12 [DO Concept]
DO Cross reference
- immunodeficiency 12 [DO Concept]
Genes related to phenotype
- Malt1 paracaspase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Growth delay [HPO term]
- Immunodeficiency [HPO term]
- Osteoporosis [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent viral infections [HPO term]
Not associated HPO term(s)
- Abnormal lymphocyte count [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to MALT1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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