loading...| Preferred Name |
Turner syndrome |
|
| Synonyms |
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 gonadal dysgenesis 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 monosomy X |
|
| 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 |
|
| 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 |
|
| label |
Turner syndrome |
|
| prefixIRI |
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 |
|
| textual definition |
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0019852 http://purl.obolibrary.org/obo/MONDO_0021124 |