You are using an outdated browser. Please upgrade your browser to improve your experience.
craniolenticulosutural dysplasia
Disease Summary
Associated Targets (4)
Tbio
4
Mondo Description Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Uniprot Description Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.
Disease Ontology Description An autosomal recessive disorder 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.
Download Data for craniolenticulosutural dysplasia
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070307
MESH:C564332
OMIM:607812
Orphanet:50814
SCTID:725100001
UMLS:C1843042
MONDO:0011911
High level summary of knowledge for a disease, including descriptions and datasource references.