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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:CODAS syndrome
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Accession:DOID:0111274 term browser browse the term
Definition:A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. (DO)
Synonyms:exact_synonym: LONP1-RELATED CONDITION;   cerebral, ocular, dental, auricular, and skeletal anomalies syndrome;   cerebral, ocular, dental, auricular, and skeletal syndrome;   cerebral, ocular, dental, auricular, skeletal anomalies syndrome;   cerebro-oculo-dento-auriculo-skeletal syndrome
 primary_id: MESH:C536434
 alt_id: MIM:600373
 xref: GARD:1418;   NCI:C126744;   ORDO:1458


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CODAS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition		 OMIM
CTD
ClinVar		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      CODAS syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            mouth disease 1039
              tooth disease 465
                Tooth Abnormalities 297
                  CODAS syndrome 1
paths to the root