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SHORT syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010026

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. [ Orphanet:3163 ]

Synonyms: Aarskog-Ose-Pande syndrome short syndrome Rieger anomaly-partial lipodystrophy syndrome SHORT syndrome lipodystrophy-Rieger anomaly-diabetes syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:7633 (Orphanet:3163)
  • Orphanet:3163 (OMIM:269880)
  • UMLS:C0878684 (Orphanet:3163/e)
  • DOID:0111454 (MONDO:equivalentTo)
  • OMIM:269880 (Orphanet:3163/e)
  • MESH:C537327 (Orphanet:3163/e)
  • NORD:1710 (MONDO:NORD)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/5723

https://github.com/monarch-initiative/mondo/issues/1567

exactMatch

http://www.orpha.net/ORDO/Orphanet_3163

http://identifiers.org/mesh/C537327

https://omim.org/entry/269880

http://linkedlifedata.com/resource/umls/id/C0878684

http://purl.obolibrary.org/obo/DOID_0111454

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005015

http://purl.obolibrary.org/obo/MONDO_0015333

has related synonym

short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay

short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay

lipodystrophy, partial, with Rieger anomaly and short stature

partial lipodystrophy with Rieger anomaly and short stature

id

MONDO:0010026

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010026