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Knobloch syndrome 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0800167

Synonyms: Knobloch syndrome, type 1 KNO1 KNOBLOCH syndrome 1 Knobloch syndrome 1 retinal detachment-occipital encephalocele syndrome Knobloch syndrome type 1 Knobloch-Layer syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:1571 (OMIM:267750)
  • OMIM:267750 (Orphanet:1571/e)
  • MESH:C537209 (Orphanet:1571/e)
  • GARD:380 (Orphanet:1571)
  • UMLS:C4551775 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:703542000 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5404

https://github.com/monarch-initiative/mondo/issues/4521

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://identifiers.org/mesh/C537209

https://omim.org/entry/267750

http://identifiers.org/snomedct/703542000

http://www.orpha.net/ORDO/Orphanet_1571

http://linkedlifedata.com/resource/umls/id/C4551775

has related synonym

myopia retinal detachment encephalocele

retinal detachment and occipital encephalocele

KNO

id

MONDO:0800167

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0800167

https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome

Term relations

Subclass of: