Metadata | |
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ID | DOID:0060450 |
Name | Lisch epithelial corneal dystrophy |
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. https://pubmed.ncbi.nlm.nih.gov/11024418/, https://pubmed.ncbi.nlm.nih.gov/37972748/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
band-shaped and whorled microcystic [EXACT] LECD [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |