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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Id | http://purl.obolibrary.org/obo/DOID_3491
http://purl.obolibrary.org/obo/DOID_3491
|
|---|---|
| Preferred Name | Turner syndrome |
| Definitions |
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.
No OMIM mapping, confirmed by DO. [LS].
|
| Synonyms |
Bonnevie-Ullrich syndrome
XO syndrome
Monosomy X
Karyotype 45, X
monosomy X syndrome
Gonadal dysgenesis - Turner
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. No OMIM mapping, confirmed by DO. [LS]. |
|---|---|
| label |
Turner syndrome
|
| comment |
No OMIM mapping, confirmed by DO. [LS].
|
| prefLabel |
Turner syndrome
|
| 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
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|
| notation |
DOID:3491
|
| in_subset | |
| id |
DOID:3491
|
| note |
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.
No OMIM mapping, confirmed by DO. [LS].
|
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| 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.
|
| has_alternative_id |
DOID:5448
|
| type | |
| has_exact_synonym |
Bonnevie-Ullrich syndrome
XO syndrome
Monosomy X
Karyotype 45, X
monosomy X syndrome
Gonadal dysgenesis - Turner
See more
See less
|
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