DiseaseID 26833
D-双功能蛋白缺乏症
D-Bifunctional Protein Deficiency
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected in
Relationship Network
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Disease: 1Symptom: 10Target: 19Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26833
- Core Entity Id
- 119401
- Source Entity Count
- 1
- Preferred Name
- D-Bifunctional Protein Deficiency
- Name Cn
- D-双功能蛋白缺乏症
- Name Pinyin
- D- Shuang Gong Neng Dan Bai Que Fa Zheng
- Name En
- D-Bifunctional Protein Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
D-Bifunctional Protein Deficiency
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0342870
Sym Map
SMDE05181
Etcm Disease
D-Bifunctional Protein Deficiency
Itcmdb Generated
ITX-DISEASE-0E761C7B45C5
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease D-Bifunctional Protein Deficiency Details page
Basic Information
Disease Name
D-Bifunctional Protein Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.