Severe Combined Immunodeficiency due to CD45 Deficiency

Preferred Label : Severe Combined Immunodeficiency due to CD45 Deficiency;

NCIt synonyms : Severe Combined Immunodeficiency, T cell-Negative, B-cell/Natural Killer Cell Positive, PTPRC; SCID-PTPRC;

NCIt related terms : CD45 Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive.;

NCI Metathesaurus CUI : CL1642666;

Details

Origin ID

C176605;

UMLS CUI

C5447327;

Currated CISMeF NLP mapping
- CD45 deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_mapped_to_gene
- IL7R Gene [NCIt concept]
- PTPRC Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- PTPRC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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