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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:Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous
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Accession:DOID:9007903 term browser browse the term
Synonyms:exact_synonym: JEB2C;   LOCS;   Laryngeal and ocular granulation in indian children;   Laryngoonychocutaneous Syndrome;   Logic syndrome;   laryngo-onycho-cutaneous syndrome
 primary_id: MESH:C537032
 alt_id: OMIM:245660


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Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome		 OMIM
CTD
ClinVar		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      junctional epidermolysis bullosa 9
                        Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
paths to the root