DiseaseID 25748
无过氧化氢酶血症
Acatalasemia
NCI2016_02D:A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections.|MSH2017_2016_08_12:A rare autosomal recessive disorde
Relationship Network
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Disease: 1Symptom: 1Target: 18Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25748
- Core Entity Id
- 118316
- Source Entity Count
- 1
- Preferred Name
- Acatalasemia
- Name Cn
- 无过氧化氢酶血症
- Name Pinyin
- Wu Guo Yang Hua Qing Mei Xue Zheng
- Name En
- Acatalasemia
- 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 disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections.|MSH2017_2016_08_12:A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acatalasemia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268419
Sym Map
SMDE00189
Etcm Disease
Acatalasemia
Itcmdb Generated
ITX-DISEASE-B7A9057330D1
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Acatalasemia Details page
Basic Information
Disease Name
Acatalasemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Oral diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections.|MSH2017_2016_08_12:A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.