DiseaseID 25809
甲硫氨酸腺苷转移酶缺乏症
Methionine Adenosyltransferase Deficiency
NCI2016_02D:A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.|HPO2016_07_04:An increased
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25809
- Core Entity Id
- 118377
- Source Entity Count
- 1
- Preferred Name
- Methionine Adenosyltransferase Deficiency
- Name Cn
- 甲硫氨酸腺苷转移酶缺乏症
- Name Pinyin
- Jia Liu An Suan Xian Gan Zhuan Yi Mei Que Fa Zheng
- Name En
- Methionine Adenosyltransferase 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 metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.|HPO2016_07_04:An increased concentration of methionine in the blood. [HPO:gcarletti]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Methionine Adenosyltransferase Deficiency
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268621
Icd10
E72.19
Sym Map
SMDE00436
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.|HPO2016_07_04:An increased concentration of methionine in the blood. [HPO:gcarletti]