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 |
NCI:C34434 UMLS_CUI:C0041408 GARD:7831 SNOMEDCT_US_2021_09_01:38804009 MESH:D014424 NCI:C26900 UMLS_CUI:C1527168 GARD:2540 ICD10CM:Q96 |
|
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_alternative_id |
DOID:5448 |
|
has_exact_synonym |
Bonnevie-Ullrich syndrome XO syndrome Monosomy X Karyotype 45, X monosomy X syndrome Gonadal dysgenesis - Turner |
|
has_obo_namespace |
disease_ontology |
|
IAO_0000115 |
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 |
DOID:3491 |
|
in_subset | ||
label |
Turner syndrome |
|
notation |
DOID:3491 |
|
prefLabel |
Turner syndrome |
|
subClassOf |