JSON

Turner syndrome

^ http://purl.obolibrary.org/obo/MONDO_0019499

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. [ Orphanet:881 ]

Term info

database cross reference
  • Orphanet:881 (MONDO:equivalentTo)
  • ICD9:758.7 (MONDO:i2s)
  • GARD:0002458 (MONDO:equivalentTo)
  • GARD:0002540 (MONDO:equivalentTo)
  • MedDRA:10045181 (Orphanet:881/e)
  • GARD:0002459 (MONDO:equivalentTo)
  • DOID:3491 (MONDO:equivalentTo)
  • UMLS:C0041408 (Orphanet:881/e)
  • MESH:D014424 (Orphanet:881/e)
  • SCTID:38804009 (MONDO:equivalentTo)
  • NCIT:C26900 (MONDO:equivalentTo)
  • GARD:0007831 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

closeMatch

http://identifiers.org/meddra/10045181

definition

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

exactMatch

http://identifiers.org/mesh/D014424, http://linkedlifedata.com/resource/umls/id/C0041408, http://identifiers.org/snomedct/38804009, http://purl.obolibrary.org/obo/Orphanet_881, http://purl.obolibrary.org/obo/NCIT_C26900, http://purl.obolibrary.org/obo/DOID_3491

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020226

has broad synonym

gonadal dysgenesis

has exact synonym

45,X syndrome, XO syndrome, monosomy X syndrome, 45,X gonadal dysgenesis, 45,X0 syndrome, gonadal dysgenesis - Turner, 45X syndrome, karyotype 45, X, 45,X/46,XX syndrome

has narrow synonym

monosomy X

has related synonym

Ullrich-Turner syndrome, 45, X syndrome, Bonnevie-Ullrich syndrome, Turner Varny syndrome, genital dwarfism, gonadal dysgenesis (45,X), Schereshevkii Turner syndrome, gonadal dysgenesis Turner type, genital dwarfism, Turner type, chromosome X monosomy X

id

MONDO:0019499

seeAlso

https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type, https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism, https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome