DiseaseID 25852
甲基丙二酸血症合并高同型半胱氨酸血症,CblX型
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
JABL99:Nonsyndromic form of moderate mental retardation with below average height, brachycephaly, increased limb span, and behavioral problems.
Relationship Network
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Disease: 1Symptom: 3Target: 19Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25852
- Core Entity Id
- 118420
- Source Entity Count
- 1
- Preferred Name
- Methylmalonic Acidemia And Homocysteinemia, Cblx Type
- Name Cn
- 甲基丙二酸血症合并高同型半胱氨酸血症,CblX型
- Name Pinyin
- Jia Ji Bing Er Suan Xue Zheng He Bing Gao Tong Xing Ban Guang An Suan Xue Zheng ,cblx Xing
- Name En
- Methylmalonic Acidemia And Homocysteinemia, Cblx Type
- 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
- JABL99:Nonsyndromic form of moderate mental retardation with below average height, brachycephaly, increased limb span, and behavioral problems.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796208
Sym Map
SMDE00650
Etcm Disease
Methylmalonic Acidemia and Homocysteinemia, Cblx Type
Itcmdb Generated
ITX-DISEASE-3A260C584305
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Methylmalonic Acidemia and Homocysteinemia, Cblx Type Details page
Basic Information
Disease Name
Methylmalonic Acidemia and Homocysteinemia, Cblx Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Mental diseases;Neuronal diseases
Disease Definition
JABL99:Nonsyndromic form of moderate mental retardation with below average height, brachycephaly, increased limb span, and behavioral problems.