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.

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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.