| Metadata | |
|---|---|
| ID | DOID:0111704 |
| Name | chromosome 2q37 deletion syndrome |
| 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. https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23188045, https://www.ncbi.nlm.nih.gov/pubmed/24715439, https://www.ncbi.nlm.nih.gov/pubmed/25402011 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702357000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
2q37 microdeletion syndrome [EXACT] Albright hereditary osteodystrophy type 3 [EXACT] Albright hereditary osteodystrophy-like syndrome [EXACT] Albright's hereditary osteodystrophy-like syndrome [EXACT] BDMR [EXACT] Brachydactyly-intellectual disability syndrome [EXACT] Del(2)(q37) [EXACT] deletion 2q37 [EXACT] monosomy 2q37qter [EXACT] |
| Parent Relationships |