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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:Lisch epithelial corneal dystrophy
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Accession:DOID:0060450 term browser browse the term
Definition:An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO)
Synonyms:exact_synonym: LECD;   band-shaped and whorled microcystic corneal epithelial dystrophy
 related_synonym: band-shaped and whorled microcystic
 primary_id: MESH:C567588
 alt_id: MIM:620763
 xref: ORDO:98955


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Lisch epithelial corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY | ClinVar Annotator: match by term: Lisch epithelial corneal dystrophy		 OMIM
CTD
ClinVar		 PMID:1621784 PMID:11030752 PMID:11317355 PMID:12182165 PMID:14749347 More... NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        corneal disease 239
          corneal dystrophy 54
            epithelial and subepithelial dystrophy 6
              Lisch epithelial corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              corneal disease 239
                corneal dystrophy 54
                  epithelial and subepithelial dystrophy 6
                    Lisch epithelial corneal dystrophy 1
paths to the root