Ritscher-Schinzel syndrome 2

Ritscher-Schinzel syndrome 2

http://purl.obolibrary.org/obo/MONDO_0010499

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Ritscher-Schinzel syndrome caused by mutation in CCDC22 Ritscher-Schinzel syndrome 2, X-linked recessive Ritscher-Schinzel syndrome 2 RTSC2 Ritscher-Schinzel syndrome type 2 CCDC22 Ritscher-Schinzel syndrome

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Term mappings

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C4225419 (MONDO:ncbi_mim2gene_medline)
GARD:15278 (OMIM:300963)
DOID:0060572 (MONDO:equivalentTo)
OMIM:300963 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C4225419

https://omim.org/entry/300963

http://purl.obolibrary.org/obo/DOID_0060572

MONDO:0010499

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010499

Term relations

Subclass of:

Ritscher-Schinzel syndrome