DiseaseID 18380

瘦素缺乏或功能障碍

disease

NCI2016_02D:Deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the LEP gene.

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Relationship Network

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Disease: 1Symptom: 2Target: 19Links: 26
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Record Fields

Scalar fields from the final disease record.

Disease Id
18380
Core Entity Id
76771
Source Entity Count
1
Preferred Name
Leptin Deficiency Or Dysfunction
Name Cn
瘦素缺乏或功能障碍
Name Pinyin
Shou Su Que Fa Huo Gong Neng Zhang Ai
Name En
Leptin Deficiency Or Dysfunction
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Do Class
genetic disease
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
genetic disease
Disease Definition
NCI2016_02D:Deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the LEP gene.
Version
v1
Suppressed
No

Names

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

Name
Leptin Deficiency Or Dysfunction
Role
preferred
Name
Congenital Leptin Deficiency
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS021832
Omim
614962
Umls
C3554224
Sym Map
SMDE02358
Do Class
DOID:630
Dis Ge Net
C3554224
Umls Sty
T047
Etcm Disease
Leptin Deficiency or Dysfunction
Tcmbank Disease
4328
Itcmdb Generated
ITX-DISEASE-65BDF86CE43B

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Leptin Deficiency or Dysfunction Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Leptin Deficiency or Dysfunction
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Neuronal diseases;Reproductive diseases
Disease Definition
NCI2016_02D:Deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the LEP gene.
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome