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Meier-Gorlin syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0016817

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). [ Orphanet:2554 ]

Synonyms: Meier-Gorlin syndrome ear-patella-short stature syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060306 (MONDO:equivalentTo)
  • OMIMPS:224690 (MONDO:equivalentTo)
  • MedDRA:10070612 (Orphanet:2554/e)
  • Orphanet:2554 (MONDO:equivalentTo)
  • GARD:2033 (Orphanet:2554)
  • NORD:1077 (MONDO:NORD)
  • MESH:C538012 (Orphanet:2554/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6751

closeMatch

http://identifiers.org/meddra/10070612

exactMatch

https://omim.org/phenotypicSeries/PS224690

http://purl.obolibrary.org/obo/DOID_0060306

http://www.orpha.net/ORDO/Orphanet_2554

http://identifiers.org/mesh/C538012

id

MONDO:0016817