FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Turner syndrome
go back to main search page
Accession:DOID:3491 term browser browse the term
Definition:A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Synonyms:exact_synonym: Bonnevie Ullrich Syndrome;   Gonadal Dysgenesis, 45,X;   Gonadal dysgenesis - Turner;   Karyotype 45, X;   Monosomy X;   Status Bonnevie Ullrich;   Turner's Syndrome;   Turners Syndrome;   Ullrich Turner Syndrome;   XO Gonadal Dysgenesis;   XO syndrome;   monosomy X syndrome
 primary_id: MESH:D014424
 alt_id: RDO:0000234
 xref: GARD:2540;   GARD:7831
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Turner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12743588
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743588
RGD:12743598
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432073

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14025
    syndrome 4467
      Turner syndrome 8
        Cognitive Function 1, Social 0
        Turner Syndrome-Associated Neurocognitive Phenotype 0
        mixed gonadal dysgenesis 0
Path 2
Term Annotations click to browse term
  disease 14025
    Developmental Diseases 6884
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6501
        Congenital Abnormalities 3472
          chromosomal disease 1143
            Sex Chromosome Disorders 42
              Sex Chromosome Disorders of Sex Development 17
                Turner syndrome 8
                  Cognitive Function 1, Social 0
                  Turner Syndrome-Associated Neurocognitive Phenotype 0
                  mixed gonadal dysgenesis 0
paths to the root