JSON

Coffin-Siris syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0015452

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. [ Orphanet:1465 ]

Synonyms: CSS Coffin-Siris syndrome fifth digit syndrome short stature-onychodysplasia. dwarfism-onychodysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:759.89 (MONDO:relatedTo)
  • UMLS:C0265338 (Orphanet:1465/e)
  • Orphanet:1465 (MONDO:equivalentTo)
  • NORD:984 (MONDO:NORD)
  • MESH:C536436 (Orphanet:1465/e)
  • OMIMPS:135900 (MONDO:equivalentTo)
  • NCIT:C35321 (MONDO:equivalentTo)
  • DOID:1925 (MONDO:equivalentTo)
  • SCTID:10007009 (MONDO:equivalentTo)
  • GARD:6124 (Orphanet:1465)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

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

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

exactMatch

http://identifiers.org/snomedct/10007009

http://identifiers.org/mesh/C536436

https://omim.org/phenotypicSeries/PS135900

http://linkedlifedata.com/resource/umls/id/C0265338

http://purl.obolibrary.org/obo/DOID_1925

http://purl.obolibrary.org/obo/NCIT_C35321

http://www.orpha.net/ORDO/Orphanet_1465

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019054

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

has related synonym

intellectual disability with absent fifth fingernail and terminal phalanx

id

MONDO:0015452

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0015452