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Schinzel-Giedion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010010

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. [ Orphanet:798 ]

Synonyms: Schinzel-Giedion syndrome Schinzel-Giedion midface-retraction syndrome SGS

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C129308 (MONDO:equivalentTo)
  • MESH:C536632 (MONDO:equivalentTo)
  • GARD:117 (Orphanet:798)
  • Orphanet:798 (OMIM:269150)
  • UMLS:C0265227 (Orphanet:798/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • OMIM:269150 (Orphanet:798/e)
  • NORD:1694 (MONDO:NORD)
  • SCTID:18899000 (MONDO:equivalentTo)
  • MedDRA:10063540 (Orphanet:798/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10063540

exactMatch

http://linkedlifedata.com/resource/umls/id/C0265227

http://www.orpha.net/ORDO/Orphanet_798

https://omim.org/entry/269150

http://identifiers.org/snomedct/18899000

http://identifiers.org/mesh/C536632

http://purl.obolibrary.org/obo/NCIT_C129308

has related synonym

Schinzel Giedion syndrome

Schinzel-Giedion midface retraction syndrome

Schinzel Giedion midface-retraction syndrome

Sgs

id

MONDO:0010010

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010010