loading...| Preferred Name |
Turner syndrome |
| Synonyms |
XO 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 |
NCI:C34434 UMLS_CUI:C0041408 ICD10CM:Q96 NCI:C26900 SNOMEDCT_US_2020_03_01:38804009 GARD:2540 GARD:7831 MESH:D014424 UMLS_CUI:C1527168 |
| has exact synonym |
XO syndrome Monosomy X Bonnevie-Ullrich syndrome Karyotype 45, X monosomy X syndrome Gonadal dysgenesis - Turner |
| has_alternative_id |
DOID:5448 |
| id |
DOID:3491 |
| in_subset | |
| label |
Turner syndrome |
| notation |
DOID:3491 |
| prefLabel |
Turner syndrome |
| textual 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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |