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2q37 microdeletion syndrome

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


Explore Associated Targets
Mondo Description Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
Uniprot Description A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism.
Mondo Term and Equivalent IDs
MONDO:0010886:  2q37 microdeletion syndrome
DOID:0111704: 
GARD:0010202: 
MESH:C538317: 
NCIT:C129021: 
Orphanet:1001: 
SCTID:702357000: 
UMLS:C2931817: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)