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Turner Syndrome

Disease ID: disease_node_7677

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DbxrefGARD:2540, GARD:7831, ICD10CM:Q96, MESH:D014424, NCI:C26900, NCI:C34434, SNOMEDCT_US_2023_03_01:38804009, UMLS_CUI:C0041408, UMLS_CUI:C1527168
SubclassofDOID_14447
Data SourceDOID, MESH
SynonymsBonnevie-Ullrich syndrome, Gonadal dysgenesis - Turner, Karyotype 45, X, Monosomy X, XO syndrome, monosomy X syndrome
Mesh IdD014424
Mesh LabelTurner Syndrome
Mesh SubclassofD058533, D006330, D006059
Doid LabelTurner syndrome
Doid DescriptionA 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].
Disease Node Iddisease_node_7677
Doid IdDOID_3491
LabelTurner Syndrome
Doid Alternate IdsDOID_5448