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autosomal dominant osteopetrosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0020645

Autosomal dominant form of osteopetrosis (disease). [ MONDO : patterns/autosomal_dominant ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4272579 (MONDO:equivalentTo)
  • OMIMPS:607634 (MONDO:equivalentTo)
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/autosomal_dominant.yaml
definition
  • Autosomal dominant form of osteopetrosis (disease).
exactMatch
  • https://omim.org/phenotypicSeries/PS607634
  • http://linkedlifedata.com/resource/umls/id/C4272579
has exact synonym
  • osteopetrosis (disease), autosomal dominant
  • autosomal dominant osteopetrosis (disease)
  • OPTA
id
  • MONDO:0020645
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml