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