Search Ontology:
Human Disease
immunodeficiency 55
- Term ID
- DOID:0111993
- Synonyms
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- 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
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- MIM:617827
- ORDO:505227
- Ontology
- Human Disease ( DOID:0111993 )
- is a type of
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Genes Involved
Zebrafish Models