immunodeficiency-centromeric instability-facial anomalies syndrome 3

immunodeficiency-centromeric instability-facial anomalies syndrome 3

http://purl.obolibrary.org/obo/MONDO_0014828

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency-centromeric instability-facial anomalies syndrome type 3 immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-Facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7 ICF syndrome 3 immunodeficiency-centromeric instability-Facial anomalies syndrome type 3

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C4310799 (MONDO:ncbi_mim2gene_medline)
OMIM:616910 (MONDO:equivalentTo)
DOID:0090010 (MONDO:equivalentTo)
GARD:16168 (OMIM:616910)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0090010

https://omim.org/entry/616910

http://linkedlifedata.com/resource/umls/id/C4310799

has related synonym

ICF3

immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3

MONDO:0014828

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014828

Term relations

Subclass of:

immunodeficiency-centromeric instability-facial anomalies syndrome