Ehlers-Danlos syndrome, classic type, 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0019567


Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. [ MONDO : patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:130000 (OMIM:130000)
  • SCTID:83470009 (MONDO:equivalentTo)
  • MESH:C536194 (Orphanet:90309/e)
  • Orphanet:90309 (MONDO:equivalentObsolete)
  • UMLS:C0268335 (Orphanet:90309/e)
  • DOID:14720 (MONDO:equivalentTo)
  • NCIT:C125696 (MONDO:equivalentTo)
Subsets

ordo_etiological_subtype

definition
  • Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.
exactMatch
  • http://linkedlifedata.com/resource/umls/id/C0268335
  • http://identifiers.org/mesh/C536194
  • http://purl.obolibrary.org/obo/DOID_14720
  • http://purl.obolibrary.org/obo/NCIT_C125696
  • https://omim.org/entry/130000
  • http://identifiers.org/snomedct/83470009
has exact synonym
  • Ehlers-Danlos syndrome, type I
  • type I Ehlers-Danlos syndrome
  • EDS I
  • Ehlers-Danlos syndrome, type 1
  • EDSCL1
  • Ehlers-Danlos syndrome, classic type, 1
id
  • MONDO:0019567