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Say-field-Coldwell syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008606

Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. [ Orphanet:3133 ]

Term info

database cross reference
  • GARD:0000242 (MONDO:equivalentTo)
  • Orphanet:3133 (OMIM:190650)
  • MESH:C536619 (Orphanet:3133/e)
  • UMLS:C1860805 (Orphanet:3133/e)
  • OMIM:190650 (Orphanet:3133/e)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.

exactMatch

https://omim.org/entry/190650, http://linkedlifedata.com/resource/umls/id/C1860805, http://identifiers.org/mesh/C536619

has exact synonym

triphalangeal thumbs-dislocation of patella syndrome

has related synonym

polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence, triphalangeal thumbs and dislocation of patella

id

MONDO:0008606

seeAlso

https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome

Term relations