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Costello syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009026

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. [ Orphanet:3071 ]

Synonyms: faciocutaneoskeletal syndrome Costello syndrome FCS syndrome congenital myopathy with excess of muscle spindles

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10067380 (Orphanet:3071/e)
  • GARD:1550 (Orphanet:3071)
  • NCIT:C84652 (MONDO:exact-label-match)
  • MESH:D056685 (Orphanet:3071/e)
  • ICD9:799.89 (MONDO:relatedTo)
  • OMIM:218040 (Orphanet:3071/e)
  • Orphanet:3071 (OMIM:218040)
  • DOID:0050469 (MONDO:equivalentTo)
  • NORD:1011 (MONDO:NORD)
  • SCTID:309776008 (MONDO:equivalentTo)
  • UMLS:C0587248 (Orphanet:3071/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

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

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10067380

exactMatch

http://www.orpha.net/ORDO/Orphanet_3071

https://omim.org/entry/218040

http://purl.obolibrary.org/obo/DOID_0050469

http://identifiers.org/snomedct/309776008

http://identifiers.org/mesh/D056685

http://linkedlifedata.com/resource/umls/id/C0587248

http://purl.obolibrary.org/obo/NCIT_C84652

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019292

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

has related synonym

CSTLO

myopathy, congenital, with excess of muscle spindles

id

MONDO:0009026

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009026

https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome