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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)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory