|
DOID:0070307 - craniolenticulosutural dysplasia
Disease Ontology 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.
Synonyms: Boyadjiev-Jabs Syndrome, cranio-lenticulo-sutural dysplasia, CLSD
Xenbase Genes
:
sec23a
| MIM:607812 - CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)