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oculocerebrofacial syndrome, Kaufman type

Go to external page http://purl.obolibrary.org/obo/MONDO_0009485

Synonyms: blepharophimosis-ptosis-intellectual disability syndrome oculocerebrofacial syndrome, Kaufman type BPIDS

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3084 (Orphanet:2707)
  • MESH:C537013 (Orphanet:2707/e)
  • SCTID:722056009 (MONDO:equivalentTo)
  • Orphanet:2707 (OMIM:244450)
  • DOID:0111456 (MONDO:equivalentTo)
  • UMLS:C1855663 (Orphanet:2707/e)
  • OMIM:244450 (Orphanet:2707/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6744

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_2707

http://identifiers.org/snomedct/722056009

https://omim.org/entry/244450

http://purl.obolibrary.org/obo/DOID_0111456

http://linkedlifedata.com/resource/umls/id/C1855663

http://identifiers.org/mesh/C537013

excluded subClassOf

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

has related synonym

Kaufman oculocerebrofacial syndrome

severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet

KOS

kos

severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet

id

MONDO:0009485

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009485