Preferred Name |
Turner Syndrome |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26900 |
ALT_DEFINITION |
A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS (LH and FOLLICLE STIMULATING HORMONE) and decreased estradiol level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION. genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples. |
code |
C26900 |
Concept_In_Subset | |
Contributing_Source |
NICHD |
DEFINITION |
A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. |
FULL_SYN |
Gonadal Dysgenesis |
Has_NICHD_Parent | |
label |
Turner Syndrome |
Legacy_Concept_Name |
Turner_s_Syndrome |
NICHD_Hierarchy_Term |
Turner Syndrome |
Preferred_Name |
Turner Syndrome |
prefixIRI |
C26900 |
prefLabel |
Turner Syndrome |
Semantic_Type |
Disease or Syndrome |
UMLS_CUI |
C0041408 |
subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27564 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_3491 | Human Disease Ontology 123 | LOOM | |
http://purl.bioontology.org/ontology/MESH/D014424 | Medical Subject Headings | LOOM |