DiseaseID 16365
芳香化酶缺乏症
disease
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this pa
Relationship Network
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Disease: 1Symptom: 9Target: 18Links: 33
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16365
- Core Entity Id
- 74430
- Source Entity Count
- 1
- Preferred Name
- Aromatase Deficiency
- Name Cn
- 芳香化酶缺乏症
- Name Pinyin
- Fang Xiang Hua Mei Que Fa Zheng
- Name En
- Aromatase Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this pa
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Aromatase Deficiency
Role
preferred
Name
Glucocorticoid Resistance
Role
preferred
Name
Congenital Estrogen Deficiency
Role
alias
Name
PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS018619
Omim
613546
Umls
C0853662C0878680C1841972C1960539
Icd10
E25.8
Sym Map
SMDE00397SMDE01725
Dis Ge Net
C1960539
Orphanet
78691
Umls Sty
T047
Me Sh Class
C12C13C16C17C18C19
Etcm Disease
Aromatase Deficiency
Tcmbank Disease
15871
Itcmdb Generated
ITX-DISEASE-F2DD322A3874
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Aromatase Deficiency Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Aromatase Deficiency
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Reproductive diseases
Disease Definition
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this paAromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, os
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome