FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

severe combined immunodeficiency with sensitivity to ionizing radiation

Synonyms
Definitions

A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.

ID

http://purl.obolibrary.org/obo/DOID_0090012

definition

A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

severe combined immunodeficiency with sensitivity to ionizing radiation

prefixIRI

DOID:0090012

prefLabel

severe combined immunodeficiency with sensitivity to ionizing radiation

subClassOf

http://purl.obolibrary.org/obo/DOID_627

http://purl.obolibrary.org/obo/DOID_0050737

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