| Metadata | |
|---|---|
| ID | DOID:0070821 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070821 Copy |
| Name | ocular pterygium-digital keloid dysplasia syndrome |
| Definition | A syndrome characterized by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision, and digital keloid formation after minor trauma that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. https://pubmed.ncbi.nlm.nih.gov/25124224/, https://pubmed.ncbi.nlm.nih.gov/33450762/, https://pubmed.ncbi.nlm.nih.gov/9716334/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621091 exactMatch UMLS_CUI:C5975613 |
| Subsets |
DO_rare_slim |
| Synonyms |
OPDKD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |