chromosome 1p36 deletion syndrome

Term ID

DOID:0060410

Synonyms

• 1p36 deletion syndrome
• deletion 1p36
• monosomy 1p36
• subtelomeric 1p36 deletion

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

References

• GARD:6082
• MESH:C535362
• MIM:607872
• NCI:C74983
• ORDO:1606
• SNOMEDCT_US_2023_03_01:699306003
• UMLS_CUI:C1842870

Ontology

Human Disease   ( DOID:0060410 )