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

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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