RAB23-related Carpenter syndrome

RAB23-related Carpenter syndrome

http://purl.obolibrary.org/obo/MONDO_0008710

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Carpenter syndrome 1 Carpenter syndrome type 1 Carpenter syndrome caused by mutation in RAB23 RAB23 Carpenter syndrome RAB23-related Carpenter syndrome

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Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

OMIM:201000 (MONDO:equivalentTo)
SCTID:205813009 (MONDO:equivalentTo)
GARD:15128 (OMIM:201000)

Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

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

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://identifiers.org/snomedct/205813009

https://omim.org/entry/201000

has broad synonym

acrocephalopolysyndactyly type 2

ACPS 2

Carpenter syndrome

has related synonym

CRPT1

CARPENTER syndrome 1

MONDO:0008710

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008710

Term relations

Subclass of:

Carpenter syndrome