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 ]

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Term history

Term info

database cross reference

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

abbreviation

CRPT1 [ MONDO:Lexical OMIM:201000 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948

definition

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.

exactMatch

http://identifiers.org/snomedct/205813009, https://omim.org/entry/201000

has broad synonym

acrocephalopolysyndactyly type 2, ACPS 2, Carpenter syndrome

has exact synonym

Carpenter syndrome 1, Carpenter syndrome type 1, Carpenter syndrome caused by mutation in RAB23, RAB23 Carpenter syndrome, RAB23-related Carpenter syndrome

has related synonym

CRPT1, CARPENTER syndrome 1

MONDO:0008710

Term relations

Subclass of:

Carpenter syndrome