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familial omphalocele syndrome with facial dysmorphism

Go to external page http://purl.obolibrary.org/obo/MONDO_0017235

Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. [ Orphanet:280403 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:21086 (MONDO:GARD)
  • UMLS:C4749579 (MONDO:equivalentTo)
  • MEDGEN:1655514 (MONDO:equivalentTo)
  • Orphanet:280403 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/1655514

http://www.orpha.net/ORDO/Orphanet_280403

http://linkedlifedata.com/resource/umls/id/C4749579

id

MONDO:0017235

Term relations