loading...| Preferred Name |
Turner syndrome |
|
| Synonyms |
Bonnevie-Ullrich syndrome |
|
| Definitions |
No OMIM mapping, confirmed by DO. [LS]. A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3491 |
|
| comment |
No OMIM mapping, confirmed by DO. [LS]. |
|
| database_cross_reference |
MESH:D014424 UMLS_CUI:C0041408 ICD10CM:Q96 UMLS_CUI:C1527168 SNOMEDCT_US_2023_03_01:38804009 GARD:2540 GARD:7831 NCI:C26900 NCI:C34434 |
|
| definition |
A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. |
|
| has exact synonym |
Bonnevie-Ullrich syndrome XO syndrome Monosomy X Karyotype 45, X monosomy X syndrome Gonadal dysgenesis - Turner |
|
| has_alternative_id |
DOID:5448 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3491 |
|
| in_subset | ||
| label |
Turner syndrome |
|
| notation |
DOID:3491 |
|
| prefLabel |
Turner syndrome |
|
| subClassOf |