DiseaseID 1248
CYP11A1部分缺乏引起的遗传性孤立性肾上腺皮质功能不全
disease
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, chara
Relationship Network
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Disease: 1Formula: 9Symptom: 2Target: 19Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1248
- Core Entity Id
- 1408
- Source Entity Count
- 1
- Preferred Name
- Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
- Name Cn
- CYP11A1部分缺乏引起的遗传性孤立性肾上腺皮质功能不全
- Name Pinyin
- Cyp11a1 Bu Fen Que Fa Yin Qi De Yi Chuan Xing Gu Li Xing Shen Shang Xian Pi Zhi Gong Neng Bu Quan
- Name En
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, chara
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS027720
Sym Map
SMDE02275
Dis Ge Net
C4707238
Orphanet
289548
Umls Sty
T047
Etcm Disease
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency
Tcmbank Disease
20407
Itcmdb Generated
ITX-DISEASE-38DDCA713836
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency
Global Category
Rare diseases
Anatomical Category
Endocrine diseases
Disease Definition
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, chara
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome