| Metadata | |
|---|---|
| ID | DOID:3491 |
| Name | Turner syndrome |
| 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. https://ghr.nlm.nih.gov/condition/turner-syndrome, https://rarediseases.org/rare-diseases/turner-syndrome/ |
| Xrefs |
SNOMEDCT_US_2020_03_01:38804009 UMLS_CUI:C0041408 UMLS_CUI:C1527168 |
| Alternateids |
DOID:5448 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Bonnevie-Ullrich syndrome [EXACT] Gonadal dysgenesis - Turner [EXACT] Karyotype 45, X [EXACT] Monosomy X [EXACT] monosomy X syndrome [EXACT] XO syndrome [EXACT] |
| Parent Relationships |
is_a gonadal dysgenesis |