immunodeficiency-centromeric instability-facial anomalies syndrome 4

immunodeficiency-centromeric instability-facial anomalies syndrome 4

http://purl.obolibrary.org/obo/MONDO_0014829

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

Synonyms: immunodeficiency-centromeric instability-facial anomalies syndrome type 4 immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS immunodeficiency-centromeric instability-facial anomalies syndrome 4 immunodeficiency-centromeric instability-Facial anomalies syndrome 4 ICF syndrome 4 HELLS immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency-centromeric instability-Facial anomalies syndrome type 4

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This is just here as a test because I lose it

Term information

database cross reference

GARD:16169 (OMIM:616911)
OMIM:616911 (MONDO:equivalentTo)
UMLS:C4310798 (MONDO:ncbi_mim2gene_medline)
DOID:0090011 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C4310798

https://omim.org/entry/616911

http://purl.obolibrary.org/obo/DOID_0090011

has related synonym

immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4

ICF4

MONDO:0014829

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014829

Term relations

Subclass of:

immunodeficiency-centromeric instability-facial anomalies syndrome