Terminology Service for NFDI4Health

chromosome 15q11.2 deletion syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060393


A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

chromosome 15q11.2 deletion syndrome

Synonyms
  • 15q11.2 microdeletion syndrome
database cross reference
Subsets

DO_rare_slim

created by

elvira

creation date

2015-09-28T16:21:07Z

has obo namespace

disease_ontology

id

DOID:0060393