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Jalili syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009007

Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). [ Orphanet:1873 ]

Synonyms: Jalili syndrome cone rod dystrophy-amelogenesis imperfecta syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:362.75 (MONDO:relatedTo)
  • Orphanet:1873 (OMIM:217080)
  • GARD:1463 (Orphanet:1873)
  • ICD9:520.5 (MONDO:relatedTo)
  • MESH:C000596385 (MONDO:equivalentTo)
  • DOID:0111404 (MONDO:equivalentTo)
  • SCTID:707608003 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (Orphanet:1873/ntbt)
  • UMLS:C3495589 (Orphanet:1873)
  • OMIM:217080 (Orphanet:1873/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3495589

http://identifiers.org/snomedct/707608003

https://omim.org/entry/217080

http://purl.obolibrary.org/obo/DOID_0111404

http://www.orpha.net/ORDO/Orphanet_1873

http://identifiers.org/mesh/C000596385

has related synonym

cone-rod dystrophy with amelogenesis imperfecta

cone-rod dystrophy amelogenesis imperfecta

cone-rod dystrophy and amelogenesis imperfecta

id

MONDO:0009007

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009007

https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta