About   Help   FAQ
Disease Ontology Browser
craniolenticulosutural dysplasia (DOID:0070307)
Alliance: disease page
Synonyms: Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural dysplasia, CLSD
Alt IDs: OMIM:607812, MESH:C564332, ORDO:50814, UMLS_CUI:C1843042
Definition: A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory