About   Help   FAQ
Disease Ontology Browser
Pilarowski-Bjornsson syndrome (DOID:0070757)
Alliance: disease page
Alt IDs: OMIM:617682, ICD10CM:Q87.0, ORDO:529965, UMLS_CUI:C4540131
Definition: An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
06/09/2026
MGI 6.24 		The Jackson Laboratory