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DO Term : ring dermoid of cornea [DOID:0111548] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
  • synonyms:
  • RDC,
  • ring dermoid syndrome,
  • GARD:9696,
  • MESH:C535684,
  • SNOMEDCT_US_2023_03_01:723499000,
  • 180550,
  • UMLS_CUI:C1867155,
  • OMIM:180550,
  • ORDO:91481
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