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Term:craniolenticulosutural dysplasia
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Accession:DOID:0070307 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: Boyadjiev-Jabs Syndrome;   CLSD;   cranio-lenticulo-sutural dysplasia, CLSD
 primary_id: MESH:C564332
 alt_id: DOID:9008641;   OMIM:607812;   RDO:0013336
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craniolenticulosutural dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec23a Sec23 homolog A, coat complex II component JBrowse link 6 80,059,742 80,107,340 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        craniolenticulosutural dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                craniolenticulosutural dysplasia 1
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