Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/621091
http://purl.bioontology.org/ontology/OMIM/621091
Preferred Name

OCULAR PTERYGIUM-DIGITAL KELOID DYSPLASIA SYNDROME
Synonyms
OPDKD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OPDKD
prefLabel
OCULAR PTERYGIUM-DIGITAL KELOID DYSPLASIA SYNDROME
Gene Symbol
IMF1
PDGFR
PENTT
PDGFRB
KOGS
OPDKD
IBGC4
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Scope Statement
Corneal pterygia develop in childhood [MISCELLANEOUS]
Based on report of 1 family (last curated January 2025) [MISCELLANEOUS]
Caused by mutation in the platelet-derived growth factor receptor gene (PDGFRB, 173410.0010) [MOLECULAR BASIS]
Onset of digital keloids in second to third decade [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU079366
http://purl.bioontology.org/ontology/OMIM/MTHU079374
http://purl.bioontology.org/ontology/OMIM/MTHU015896
http://purl.bioontology.org/ontology/OMIM/MTHU079375
http://purl.bioontology.org/ontology/OMIM/MTHU036378
http://purl.bioontology.org/ontology/OMIM/MTHU079373
http://purl.bioontology.org/ontology/OMIM/MTHU079377
http://purl.bioontology.org/ontology/OMIM/MTHU079371
http://purl.bioontology.org/ontology/OMIM/MTHU079368
http://purl.bioontology.org/ontology/OMIM/MTHU079369
http://purl.bioontology.org/ontology/OMIM/MTHU079376
http://purl.bioontology.org/ontology/OMIM/MTHU008446
http://purl.bioontology.org/ontology/OMIM/MTHU079370
http://purl.bioontology.org/ontology/OMIM/MTHU079367
http://purl.bioontology.org/ontology/OMIM/MTHU079372
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tui
T047
Gene Locus
5q32
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
621091
Semantic type UMLS property
Has inheritance type
cui
C5975613
OMIM Entry Type
3
OMIM MimType Value
pound
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