DiseaseID 26656
SymMap疾病SMDE04524
Anemia Due to Glycolytic Enzyme Disorders
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Relationship Network
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Disease: 1Target: 1Links: 1
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26656
- Core Entity Id
- 119224
- Source Entity Count
- 1
- Preferred Name
- SMDE04524
- Name Cn
- SymMap疾病SMDE04524
- Name Pinyin
- Symmap Ji Bing Smde04524
- Name En
- Anemia Due to Glycolytic Enzyme Disorders
- 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
- Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
SMDE04524
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0398562
Icd10
D55.2
Sym Map
SMDE04524
Orphanet
868
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.