DiseaseID 26539
鸟氨酸氨甲酰基转移酶缺乏症
Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exc
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Disease: 1Symptom: 12Target: 2Links: 14
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26539
- Core Entity Id
- 119107
- Source Entity Count
- 1
- Preferred Name
- Ornithine Transcarbamylase Deficiency
- Name Cn
- 鸟氨酸氨甲酰基转移酶缺乏症
- Name Pinyin
- Niao An Suan An Jia Xian Ji Zhuan Yi Mei Que Fa Zheng
- Name En
- Ornithine Transcarbamylase 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
- Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exc
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Name
Ornithine Transcarbamylase Deficiency
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268540
Icd10
E72.4
Med Dra
10052450
Sym Map
SMDE03964SMDE04043
Orphanet
664
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exc