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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

GARD:2540

GARD:7831

ICD10CM:Q96

MESH:D014424

NCI:C26900

NCI:C34434

SNOMEDCT_US_2019_09_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

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