DiseaseID 15231
二甲基甘氨酸脱氢酶缺乏症
disease
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-
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Disease: 1Symptom: 4Target: 9Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15231
- Core Entity Id
- 73137
- Source Entity Count
- 1
- Preferred Name
- Dimethylglycine Dehydrogenase Deficiency
- Name Cn
- 二甲基甘氨酸脱氢酶缺乏症
- Name Pinyin
- Er Jia Ji Gan An Suan Tuo Qing Mei Que Fa Zheng
- Name En
- Dimethylglycine Dehydrogenase Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dimethylglycine Dehydrogenase Deficiency
Role
preferred
Name
Hyperprolinemia Type 1
Role
preferred
Name
DMG Dehydrogenase Deficiency
Role
alias
Name
DMGDH Deficiency
Role
alias
Name
DMGDHD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016991
Omim
605850
Umls
C0268529C1853892
Icd10
E72.5
Med Dra
10058513
Sym Map
SMDE00946SMDE01587
Dis Ge Net
C1853892
Orphanet
243343419
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
21098
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome