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| Term | ring dermoid of cornea | ID (Ontology) | DOID:0111548 (Human Disease) |
| Definition | 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. | ||
| Also Known As | "RDC" ; "ring dermoid syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ eye disease | |__corneal disease_____________| ring dermoid of cornea 1 rec. |
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| Is a |
autosomal dominant disease corneal disease |
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External Crossreferences & Linkouts
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GARD:9696 MESH:C535684 MIM:180550 ORDO:91481 SNOMEDCT_US_2023_03_01:723499000 UMLS_CUI:C1867155 |
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