Immunodeficiency 26 with or without Neurologic Abnormalities

Preferred Label : Immunodeficiency 26 with or without Neurologic Abnormalities;

NCIt synonyms : IMD26; DNA-PKcs Deficiency;

NCIt related terms : DNA PKcs deficiency;

NCIt definition : An autosomal recessive severe combined immunodeficiency caused by mutation(s) in the PRKDC gene, encoding DNA-dependent protein kinase catalytic subunit.;

Details

Origin ID

C176795;

UMLS CUI

C4014833;

Currated CISMeF NLP mapping
- Immunodeficiency 26 with or without neurologic abnormalities [OMIM Phenotype]
- immunodeficiency 26 [DO Concept]
See also inter- (CISMeF)
- SCID - [Severe combined immunodeficiency] due to DNA-PKcs deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to DNA-PKcs deficiency [ORDO Disease]
- Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 26 with or without neurologic abnormalities [OMIM Phenotype]
- immunodeficiency 26 [DO Concept]
disease_mapped_to_gene
- PRKDC Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

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