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KBG syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007846

KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. [ Orphanet:2332 ]

Synonyms: KBG syndrome short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:2332 (OMIM:148050)
  • GARD:82 (Orphanet:2332)
  • NORD:1322 (MONDO:NORD)
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:711156009 (MONDO:equivalentTo)
  • OMIM:148050 (Orphanet:2332/e)
  • DOID:14780 (MONDO:equivalentTo)
  • UMLS:C0220687 (Orphanet:2332/e)
  • MESH:C537015 (Orphanet:2332/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://linkedlifedata.com/resource/umls/id/C0220687

http://purl.obolibrary.org/obo/DOID_14780

https://omim.org/entry/148050

http://identifiers.org/mesh/C537015

http://www.orpha.net/ORDO/Orphanet_2332

http://identifiers.org/snomedct/711156009

has related synonym

short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies

macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies

KBGS

macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies

id

MONDO:0007846

seeAlso

https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome

https://search.clinicalgenome.org/kb/conditions/MONDO:0007846