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camptodactyly syndrome, Guadalajara type 1

^ http://purl.obolibrary.org/obo/MONDO_0008898

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. [ Orphanet:1327 ]

Term info

database cross reference
  • SCTID:720602007 (MONDO:equivalentTo)
  • GARD:0001067 (MONDO:equivalentTo)
  • UMLS:C1859359 (Orphanet:1327)
  • OMIM:211910 (Orphanet:1327/e)
  • MESH:C537970 (Orphanet:1327/e)
  • Orphanet:1327 (OMIM:211910)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
FTSS [ GARD:0001067 ]

abbreviation
GCS1 [ MONDO:Lexical OMIM:211910 ]

definition

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.

exactMatch

https://omim.org/entry/211910, http://linkedlifedata.com/resource/umls/id/C1859359, http://purl.obolibrary.org/obo/Orphanet_1327, http://identifiers.org/snomedct/720602007, http://identifiers.org/mesh/C537970

has related synonym

GCS 1, faciothoracoskeletal syndrome, camptodactyly syndrome, Guadalajara, type I, GCS1, camptodactyly syndrome Guadalajara type 1, camptodactyly syndrome, Guadalajara, type 1, FTSS

id

MONDO:0008898

seeAlso

https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1