Pharos: chromosome 3q29 microdeletion syndrome (2 associated targets)

Disease Summary

Associated Targets (2)

Tchem

1

Tbio

1

GARD Rare

Mondo Description

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Mondo Term and Equivalent IDs

MONDO:0012269: chromosome 3q29 microdeletion syndrome

DOID:0060419: chromosome 3q29 microdeletion syndrome

GARD:0011974:

MESH:C567184:

OMIM:609425: CHROMOSOME 3q29 DELETION SYNDROME

Orphanet:65286:

SCTID:716456000:

UMLS:C2674949: