DiseaseID 16927
苗勒管发育不全伴高雄激素血症
disease
NCI2016_02D:Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of
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Disease: 1Symptom: 1Target: 17Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16927
- Core Entity Id
- 75072
- Source Entity Count
- 1
- Preferred Name
- Mullerian Aplasia And Hyperandrogenism
- Name Cn
- 苗勒管发育不全伴高雄激素血症
- Name Pinyin
- Miao Lei Guan Fa Yu Bu Quan Ban Gao Xiong Ji Su Xue Zheng
- Name En
- Mullerian Aplasia And Hyperandrogenism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mullerian Aplasia And Hyperandrogenism
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS019339
Omim
158330
Umls
C2675014
Icd10
Q51.8
Sym Map
SMDE01842
Do Class
DOID:630DOID:7
Dis Ge Net
C2675014
Orphanet
247768
Umls Sty
T047
Me Sh Class
C12C13C16C19
Etcm Disease
Mullerian Aplasia and Hyperandrogenism
Tcmbank Disease
13962
Itcmdb Generated
ITX-DISEASE-DA866DCDA623
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Mullerian Aplasia and Hyperandrogenism Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Mullerian Aplasia and Hyperandrogenism
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Reproductive diseases
Disease Definition
NCI2016_02D:Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome