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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:Laryngo Onycho Cutaneous Syndrome
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Accession:DOID:9007903 term browser browse the term
Synonyms:exact_synonym: LOCS;   Laryngeal and ocular granulation in indian children;   Laryngoonychocutaneous Syndrome;   Logic syndrome
 primary_id: MESH:C537032;   RDO:0002788
 alt_id: OMIM:245660
For additional species annotation, visit the Alliance of Genome Resources.


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Laryngo Onycho Cutaneous Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by OMIM:245660
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laryngoonychocutaneous syndrome
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
OMIM
ClinVar
CTD
PMID:11810295, PMID:12915477, PMID:24033266, PMID:25363238, PMID:25741868, PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Laryngo Onycho Cutaneous Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            conjunctival disease 59
              Laryngo Onycho Cutaneous Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.