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loading...| Preferred Name |
ring dermoid of cornea |
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| Synonyms |
RDC |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111548 |
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:723499000 MESH:C535684 OMIM:180550 UMLS_CUI:C1867155 GARD:9696 ORDO:91481 |
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| has exact synonym |
RDC ring dermoid syndrome |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0111548 |
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| in_subset | ||
| label |
ring dermoid of cornea |
|
| notation |
DOID:0111548 |
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| prefLabel |
ring dermoid of cornea |
|
| textual 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. |
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| subClassOf |
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