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Kabuki syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0016512

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. [ Orphanet:2322 ]

Synonyms: KMS Niikawa-Kuroki syndrome Kabuki make-up syndrome Kabuki make up syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C124837 (MONDO:equivalentTo)
  • UMLS:C0796004 (Orphanet:2322/e)
  • MedDRA:10063935 (Orphanet:2322/e)
  • MESH:C537705 (Orphanet:2322/e)
  • DOID:0060473 (MONDO:equivalentTo)
  • OMIMPS:147920 (MONDO:equivalentTo)
  • SCTID:313426007 (MONDO:equivalentTo)
  • GARD:6810 (Orphanet:2322)
  • NORD:1318 (MONDO:NORD)
  • Orphanet:2322 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10063935

exactMatch

http://identifiers.org/mesh/C537705

http://purl.obolibrary.org/obo/NCIT_C124837

http://identifiers.org/snomedct/313426007

http://linkedlifedata.com/resource/umls/id/C0796004

http://purl.obolibrary.org/obo/DOID_0060473

http://www.orpha.net/ORDO/Orphanet_2322

https://omim.org/phenotypicSeries/PS147920

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015216

http://purl.obolibrary.org/obo/MONDO_0020161

http://purl.obolibrary.org/obo/MONDO_0015246

http://purl.obolibrary.org/obo/MONDO_0020159

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0016512