OBO ID: DOID:0111934
Term Name: immunodeficiency 38 Search Ontology:
Synonyms:
  • autosomal recessive ISG15 deficiency
  • IMD38
  • immunodeficiency 38 with basal ganglia calcification
  • immunodeficiency 38, mycobacteriosis, autosomal recessive
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Definition: A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33. (2)
References:
Ontology: Human Disease   (DOID:0111934)
OTHER immunodeficiency 38 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ISG15 Immunodeficiency 38 616126
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None