loading...| Preferred Name |
Turner syndrome |
| Synonyms |
chromosome X monosomy X gonadal dysgenesis (45,X) 45,X gonadal dysgenesis XO syndrome Ullrich-Turner syndrome gonadal dysgenesis 45,X/46,XX syndrome 45,X syndrome genital dwarfism, Turner type 45, X syndrome karyotype 45, X Turner Varny syndrome gonadal dysgenesis - Turner monosomy X Bonnevie-Ullrich syndrome 45,X0 syndrome genital dwarfism monosomy X syndrome gonadal dysgenesis Turner type 45X syndrome Schereshevkii Turner syndrome |
| Definitions |
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0019499 |
| closeMatch | |
| database_cross_reference |
NCIT:C26900 GARD:0002458 DOID:3491 GARD:0007831 GARD:0002540 UMLS:C0041408 MedDRA:10045181 MESH:D014424 GARD:0002459 SCTID:38804009 ICD9:758.7 Orphanet:881 |
| definition |
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C26900 http://linkedlifedata.com/resource/umls/id/C0041408 http://purl.obolibrary.org/obo/DOID_3491 http://identifiers.org/snomedct/38804009 |
| has_broad_synonym |
gonadal dysgenesis |
| has_exact_synonym |
45,X gonadal dysgenesis XO syndrome 45,X/46,XX syndrome 45,X syndrome karyotype 45, X gonadal dysgenesis - Turner 45,X0 syndrome monosomy X syndrome 45X syndrome |
| has_narrow_synonym |
monosomy X |
| has_related_synonym |
chromosome X monosomy X gonadal dysgenesis (45,X) Ullrich-Turner syndrome genital dwarfism, Turner type 45, X syndrome Turner Varny syndrome Bonnevie-Ullrich syndrome genital dwarfism gonadal dysgenesis Turner type Schereshevkii Turner syndrome |
| id |
MONDO:0019499 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
Turner syndrome |
| notation |
MONDO:0019499 |
| prefLabel |
Turner syndrome |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0001967 http://purl.obolibrary.org/obo/MONDO_0019852 http://purl.obolibrary.org/obo/MONDO_0021124 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0001967 http://purl.obolibrary.org/obo/MONDO_0019852 http://purl.obolibrary.org/obo/MONDO_0021124 |
| excluded subClassOf |