DiseaseID 4104

特纳综合征

disease

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Disease: 1Experiment: 2Symptom: 12Target: 12Links: 26

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Record Fields

Scalar fields from the final disease record.

Disease Id: 4104
Core Entity Id: 60400
Source Entity Count: 1
Preferred Name: Turner Syndrome
Name Cn: 特纳综合征
Name Pinyin: Te Na Zong He Zheng
Name En: Turner Syndrome
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Congenital Abnormality
Disgenet Type: disease
Mesh Class: Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Do Class: disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Class: Abnormality of the genitourinary system
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
Hpo Class Name: Abnormality of the genitourinary system
Do Class Name: disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Definition: 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to deve
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Turner Syndrome

Role

preferred

Name

Bonnevie-Ullrich Syndrome

Role

preferred

Name

Disorders Of Sex Development

Role

preferred

Name

Gonadal Dysgenesis

Role

preferred

Name

Gonadal Dysgenesis, 45,X

Role

preferred

Name

Ovarian Dysgenesis 2

Role

preferred

Name

Ovarian Dysgenesis 3

Role

preferred

Name

46, XX Testicular Disorders of Sex Development

Role

preferred

Name

46, XX true hermaphrodite

Role

preferred

Name

46, Xx Gonadal Sex Reversal

Role

preferred

Name

46,Xx Gonadal Dysgenesis

Role

preferred

Name

46,Xx Testicular Disorder Of Sex Development

Role

preferred

Name

Ambiguous Genitalia

Role

preferred

Name

Gonadal Agenesis

Role

preferred

Name

Gonadal Dysgenesis, Mixed

Role

preferred

Name

Hermaphroditism

Role

preferred

Name

Intersex Conditions

Role

preferred

Name

Ovotesticular Disorders of Sex Development

Role

preferred

Name

Premature Ovarian Failure 4

Role

preferred

Name

Pseudohermaphroditism

Role

preferred

Name

Pure Gonadal Dysgenesis

Role

preferred

Name

Sex Differentiation Disorders

Role

preferred

Name

Testicular Dysgenesis

Role

preferred

Name

True Hermaphroditism (Disorder)

Role

preferred

Name

46,Xx Sex Reversal 1

Role

alias

Name

46,Xx True Hermaphrodite

Role

alias

Name

Ambiguous External Genitalia

Role

alias

Name

Ambiguous External Genitalia At Birth

Role

alias

Name

Hermaphroditism, True

Role

alias

Name

Intersex Genitalia

Role

alias

Name

Karyotype 45,X

Role

alias

Name

Mixed Gonadal Dysgenesis

Role

alias

Name

ODG2

Role

alias

Name

ODG3

Role

alias

Name

OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED

Role

alias

Name

OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS

Role

alias

Name

Ovotesticular Disorder of Sex Development

Role

alias

Name

POF4

Role

alias

Name

Pseudohermaphroditism, Unspecified

Role

alias

Name

Sex Development Disorder

Role

alias

Name

Testicular And Ovarian Tissue Present

Role

alias

Name

True Hermaphroditism

Role

alias

Name

Turner'S Syndrome

Role

alias

Name

Turner'S Syndrome, Unspecified

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0000062HP:0000133HP:0008715HP:0010459

Herb

HBDIS001205HBDIS001207HBDIS001350HBDIS002507HBDIS002728HBDIS003032HBDIS005436HBDIS005984HBDIS005985HBDIS007309HBDIS009466HBDIS010635HBDIS012555HBDIS014437HBDIS016212HBDIS016213HBDIS019783HBDIS020138HBDIS020139HBDIS020414HBDIS021301HBDIS029228

Me Sh

D006059D006060D012734D014424D050090D058531

Omim

278850300510400045600171614324

Umls

C0018051C0036875C0041408C0242526C0432475C0685837C1527168C1845294C1845295C2936419C3280471

Icd10

Q56.3Q96Q96.0Q96.9Q99.1

Sym Map

SMDE01158SMDE02152SMDE02385SMDE03316SMDE06534SMDE07987SMDE09102SMDE09103SMDE14057

Do Class

DOID:630DOID:7

Dis Ge Net

C0018051C0018055C0019269C0033804C0036875C0041408C0242526C0266361C0266362C0302885C0432481C0687149C0949331C1527168C1845294C1845295C2748895C2930618C2930619C2936419C2936420C3280471

Orphanet

243393

Umls Sty

T019T047

Hpo Class

HP:0000119

Me Sh Class

C12C13C14C16C19

Tcmbank Disease

11032135561395314951155571572316668192241926621291272762790429029290643198434543836590970380859855

Itcmdb Generated

ITX-DISEASE-35B882C9FFF7ITX-DISEASE-55804BF5DE4CITX-DISEASE-A1FDBF8DBA07ITX-DISEASE-D5FD2F74EE70ITX-DISEASE-D771C9A0220CITX-DISEASE-FC7CB05B6E8D

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v2

Suppress

Do Class Name

disease of anatomical entitygenetic disease; disease of anatomical entity

Disease Type

diseasegroup

Hpo Class Name

Abnormality of the genitourinary system

Do Disease Class

disease of anatomical entitydisease of anatomical entity; genetic disease

Hpo Disease Class

Abnormality of the genitourinary system

Umls Disease Type

Congenital AbnormalityDisease or Syndrome

Disease Definition

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to deve46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.MSH2017_2016_08_12:In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.|CSP2006:disorder or perturbation of rate or processes of sexual maturation; includes abnormalities in sexual differentiation due to the presence or absence of genetic and endocrine factors; sex determining genes dictate the gonadal sex whereas the fetal testicular hormones determine the somatic sex during sex differentiation.NCI2016_02D:A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.|MSH2017_2016_08_12:This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.NCI2016_02D:A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the complete absence of one of the sex chromosomes. Signs and symptoms include short stature and hypogonadism.|NCI2016_02D: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.|MSH2017_2016_08_12: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.|MEDLINEPLUS_20151021:Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are <ul> <li> Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck</li> <li> Low hairline in the back</li> <li> Low-set ears</li> <li> Swollen hands and feet</li> </ul> Most women with Turner syndrome are <a href='https://www.nlm.nih.gov/medlineplus/femaleinfertility.html'>infertile</a>. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development|JABL99:A syndrome in which the affected patients have only 45 chromosomes, the loss of one of the X chromosomes producing an XO chromosome constitution. The syndrome occurs in 1/2500 female births and nearly 99% of XO fetuses are aborted. Gonadal agenesis and short stature are the main features in the surviving infants. Associated anomalies may included webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and various renal, skeletal, dermatologic, neoplastic, and autoimmune complications. Mental retardation is attributed to ring chromosome X. The phenotype varies and not all abnormalities occur in all patients.|CSP2006: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.|CHV2011_02:genetic disease that produces sterile females due to the X chromosome defect|CHV2011_02:genetic disease that produces sterile females due to the X chromosome defect|CHV2011_02:genetic disease that produces sterile females due to the X chromosome defect|CHV2011_02:genetic disease that produces sterile females due to the X chromosome defect|CHV2011_02:genetic disease that produces sterile females due to the X chromosome defectNCI2016_NCI-GLOSS_1602D:Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome.|NCI2016_02D:A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.|MSH2017_2016_08_12:A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.

Me Sh Disease Class

Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

Dis Ge Net Disease Type

diseasegroup

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases

Umls Semantic Type Name

Congenital AbnormalityDisease or Syndrome