Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

X-Linked Combined Immunodeficiency Diseases
Synonyms

immunodeficiency 6

CIDX

Xcid

x-linked severe combined immunodeficiency

X-Linked Combined Immunodeficiency Disease

combined immunodeficiency, X-linked

combined immunodeficiency, X-linked, moderate, X-linked recessive

Definitions

Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.

ID

http://www.ebi.ac.uk/efo/EFO_1001451

database_cross_reference

MedDRA:10083916

SNOMEDCT:203592006

MeSH:D053632

MONDO:0010730

OMIM:312863

DOID:60013

NCIt:C4682

definition

Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.

exactMatch

https://omim.org/entry/312863

has_exact_synonym

x-linked severe combined immunodeficiency

X-Linked Combined Immunodeficiency Disease

combined immunodeficiency, X-linked

combined immunodeficiency, X-linked, moderate, X-linked recessive

has_related_synonym

immunodeficiency 6

CIDX

Xcid

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

EFO:1001451

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#clingen

http://purl.obolibrary.org/obo/mondo#gard_rare

label

X-Linked Combined Immunodeficiency Diseases

notation

EFO:1001451

preferred label

X-Linked Combined Immunodeficiency Diseases

prefLabel

X-Linked Combined Immunodeficiency Diseases

term editor

Sirarat Sarntivijai

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0015131

subClassOf

http://www.orpha.net/ORDO/Orphanet_183770

http://purl.obolibrary.org/obo/MONDO_0044200

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