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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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craniolenticulosutural dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23a Sec23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by OMIM:607812
ClinVar Annotator: match by term: Craniolenticulosutural dysplasia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16980979 PMID:17981132 PMID:21039434 PMID:28492532 NCBI chr 6:80,059,742...80,107,340
Ensembl chr 6:80,060,916...80,107,236
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      craniolenticulosutural dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                craniolenticulosutural dysplasia 1
paths to the root