loading...| Preferred Name | Turner syndrome | |
| Synonyms |
monosomy X Ullrich-Turner syndrome gonadal dysgenesis Turner type Schereshevkii Turner syndrome Bonnevie-Ullrich syndrome genital dwarfism, Turner type chromosome X monosomy X Turner Varny syndrome gonadal dysgenesis (45,X) 45, X syndrome genital dwarfism gonadal dysgenesis monosomy X syndrome 45X syndrome 45,X/46,XX syndrome karyotype 45, X 45,X syndrome 45,X gonadal dysgenesis XO syndrome gonadal dysgenesis - Turner 45,X0 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 |
|
| database_cross_reference |
MESH:D014424 UMLS:C0041408 MEDGEN:21734 NCIT:C26900 Orphanet:881 SCTID:38804009 NANDO:2200410 icd11.foundation:1987089698 MedDRA:10045181 DOID:3491 GARD:7831 ICD9:758.7 NORD:1806 |
|
| definition |
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. |
|
| has_broad_synonym |
gonadal dysgenesis |
|
| has_exact_synonym |
monosomy X syndrome 45X syndrome 45,X/46,XX syndrome karyotype 45, X 45,X syndrome 45,X gonadal dysgenesis XO syndrome gonadal dysgenesis - Turner 45,X0 syndrome |
|
| has_narrow_synonym |
monosomy X |
|
| has_related_synonym |
Ullrich-Turner syndrome gonadal dysgenesis Turner type Schereshevkii Turner syndrome Bonnevie-Ullrich syndrome genital dwarfism, Turner type chromosome X monosomy X Turner Varny syndrome gonadal dysgenesis (45,X) 45, X syndrome genital dwarfism |
|
| IAO_0000233 | ||
| id |
MONDO:0019499 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Turner syndrome |
|
| notation |
MONDO:0019499 |
|
| preferred label |
Turner syndrome |
|
| prefLabel |
Turner syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/38804009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1987089698 http://purl.obolibrary.org/obo/DOID_3491 http://purl.obolibrary.org/obo/NCIT_C26900 http://identifiers.org/mesh/D014424 http://linkedlifedata.com/resource/umls/id/C0041408 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0019852 |
|
| excluded_subClassOf |