OBO ID: DOID:0111993
Term Name: immunodeficiency 55 Search Ontology:
Synonyms:
  • combined immunodeficiency due to GINS1 deficiency
  • IMD55
Definition: A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. https://pubmed.ncbi.nlm.nih.gov/28414293/
References:
Ontology: Human Disease   ( DOID:0111993 )
Relationships
is a type of:
OTHER immunodeficiency 55 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GINS1 Immunodeficiency 55 617827
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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