Immunodeficiency 38 with basal ganglia calcification

Preferred Label : Immunodeficiency 38 with basal ganglia calcification;

Symbol : IMD38;

CISMeF acronym : IMD38;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 38, mycobacteriosis, autosomal recessive; Isg15 deficiency, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ISG15 ubiquitin-like modifier gene (ISG15, 147571.0001);

Prefixed ID : #616126;

Details

Origin ID

616126;

UMLS CUI

C4015293;

Automatic exact mappings (from CISMeF team)
- Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [ORDO Disease]
- immunodeficiency 38 [DO Concept]
DO Cross reference
- immunodeficiency 38 [DO Concept]
Genes related to phenotype
- Ubiquitin-like modifier isg15 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Immunodeficiency [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent mycobacterial infections [HPO term]
- Seizure [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
- Recurrent viral infections [HPO term]
- Severe viral infection [HPO term]
ORDO concept(s)
- Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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