chromosome 2q37 deletion syndrome

Term ID

DOID:0111704

Synonyms

• 2q37 microdeletion syndrome
• Albright hereditary osteodystrophy type 3
• Albright hereditary osteodystrophy-like syndrome
• Albright's hereditary osteodystrophy-like syndrome
• BDMR
• Brachydactyly-intellectual disability syndrome
• Del(2)(q37)
• deletion 2q37
• monosomy 2q37qter

Definition

A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. (4)

References

• MESH:C538317
• NCI:C129021
• OMIM:600430
• ORDO:1001
• SNOMEDCT_US_2023_03_01:702357000
• UMLS_CUI:C2931817

Ontology

Human Disease   ( DOID:0111704 )