loading...| Preferred Name |
Turner syndrome |
|
| Synonyms |
45,X gonadal dysgenesis gonadal dysgenesis XO syndrome 45,X0 syndrome 45X syndrome karyotype 45, X monosomy X Bonnevie-Ullrich syndrome gonadal dysgenesis - Turner 45,X/46,XX syndrome 45,X syndrome monosomy X syndrome Schereshevkii Turner syndrome chromosome X monosomy X genital dwarfism Bonnevie-Ulrich syndrome 45, X syndrome gonadal dysgenesis Turner type Ullrich-Turner syndrome gonadal dysgenesis (45,X) Turner Varny syndrome genital dwarfism, Turner type |
|
| Definitions |
Editor note: consider splitting BU syndrome 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 |
|
| comment |
Editor note: consider splitting BU syndrome |
|
| closeMatch |
http://identifiers.org/snomedct/268299006 http://identifiers.org/snomedct/254279009 http://identifiers.org/snomedct/268356004 http://purl.obolibrary.org/obo/NCIT_C34434 http://linkedlifedata.com/resource/umls/id/C1527168 http://identifiers.org/snomedct/205691005 http://identifiers.org/snomedct/205685008 http://linkedlifedata.com/resource/umls/id/C0242526 |
|
| database_cross_reference |
GARD:0002458 MESH:D014424 COHD:4307885 ICD10:Q96.8 SCTID:38804009 ICD10:Q96.0 ICD10:Q96.1 DOID:3491 ICD10:Q96.9 ICD10:Q96 GARD:0007831 MedDRA:10045181 UMLS:C0041408 GARD:0002459 ICD10:Q96.4 ICD10:Q96.3 ICD10:Q96.2 NCIT:C26900 GARD:0002540 Orphanet:881 ICD9:758.7 |
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| exactMatch |
http://www.orpha.net/ORDO/Orphanet_881 http://identifiers.org/snomedct/38804009 http://identifiers.org/meddra/10045181 http://purl.obolibrary.org/obo/DOID_3491 http://purl.obolibrary.org/obo/NCIT_C26900 |
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| has exact synonym |
45,X gonadal dysgenesis gonadal dysgenesis XO syndrome 45,X0 syndrome 45X syndrome karyotype 45, X monosomy X Bonnevie-Ullrich syndrome gonadal dysgenesis - Turner 45,X/46,XX syndrome 45,X syndrome monosomy X syndrome |
|
| has related synonym |
Schereshevkii Turner syndrome chromosome X monosomy X genital dwarfism Bonnevie-Ulrich syndrome 45, X syndrome gonadal dysgenesis Turner type Ullrich-Turner syndrome gonadal dysgenesis (45,X) Turner Varny syndrome genital dwarfism, Turner type |
|
| id |
MONDO:0019499 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
| label |
Turner syndrome |
|
| notation |
MONDO:0019499 |
|
| 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 |
|
| textual definition |
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0015218 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0019852 http://purl.obolibrary.org/obo/MONDO_0017143 http://purl.obolibrary.org/obo/MONDO_0001967 http://purl.obolibrary.org/obo/MONDO_0019721 http://purl.obolibrary.org/obo/MONDO_0016999 |