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ONTOLOGY REPORT - ANNOTATIONS


Term:craniolenticulosutural dysplasia
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Accession:DOID:0070307 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Boyadjiev-Jabs syndrome;   CLSD;   cranio-lenticulo-sutural dysplasia, CLSD
 primary_id: MESH:C564332
 alt_id: OMIM:607812
 xref: ORDO:50814
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craniolenticulosutural dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec23a Sec23 homolog A, COPII coat complex component JBrowse link 6 80,059,742 80,107,340 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      craniolenticulosutural dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                craniolenticulosutural dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.