| Metadata | |
|---|---|
| ID | DOID:0060410 |
| Name | chromosome 1p36 deletion syndrome |
| Definition | A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:699306003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
1p36 deletion syndrome [EXACT] deletion 1p36 [EXACT] monosomy 1p36 [EXACT] subtelomeric 1p36 deletion [RELATED] |
| Parent Relationships |