loading...| Preferred Name | Turner syndrome | |
| Synonyms |
monosomy X Schereshevkii Turner syndrome chromosome X monosomy X genital dwarfism Bonnevie-Ullrich syndrome 45, X syndrome gonadal dysgenesis Turner type Ullrich-Turner syndrome gonadal dysgenesis (45,X) Turner Varny syndrome genital dwarfism, Turner type gonadal dysgenesis 45,X gonadal dysgenesis XO syndrome 45,X0 syndrome 45X syndrome karyotype 45, X gonadal dysgenesis - Turner 45,X/46,XX syndrome 45,X syndrome monosomy X 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 |
GARD:7831 MESH:D014424 SCTID:38804009 DOID:3491 MedDRA:10045181 UMLS:C0041408 icd11.foundation:1987089698 NORD:1806 NCIT:C26900 Orphanet:881 ICD9:758.7 |
|
| definition |
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. |
|
| disease arises from structure | ||
| exactMatch |
http://identifiers.org/snomedct/38804009 http://purl.obolibrary.org/obo/DOID_3491 http://purl.obolibrary.org/obo/NCIT_C26900 http://identifiers.org/mesh/D014424 |
|
| has_broad_synonym |
gonadal dysgenesis |
|
| has_exact_synonym |
45,X gonadal dysgenesis XO syndrome 45,X0 syndrome 45X syndrome karyotype 45, X gonadal dysgenesis - Turner 45,X/46,XX syndrome 45,X syndrome monosomy X syndrome |
|
| has_narrow_synonym |
monosomy X |
|
| has_related_synonym |
Schereshevkii Turner syndrome chromosome X monosomy X genital dwarfism Bonnevie-Ullrich syndrome 45, X syndrome gonadal dysgenesis Turner type Ullrich-Turner syndrome gonadal dysgenesis (45,X) Turner Varny syndrome genital dwarfism, Turner type |
|
| IAO_0000233 | ||
| id |
MONDO:0019499 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare 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/2458/genital-dwarfism https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome 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_0019852 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0019852 |