DiseaseID 7622
谷氨酸亚胺甲基转移酶缺乏症
disease
JABL99:A deficiency of the enzyme formiminotransferase associated with mental and physical retardation and cerebral defects.
Relationship Network
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Disease: 1Symptom: 2Target: 18Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7622
- Core Entity Id
- 64448
- Source Entity Count
- 1
- Preferred Name
- Glutamate Formiminotransferase Deficiency
- Name Cn
- 谷氨酸亚胺甲基转移酶缺乏症
- Name Pinyin
- Gu An Suan Ya An Jia Ji Zhuan Yi Mei Que Fa Zheng
- Name En
- Glutamate Formiminotransferase 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
- JABL99:A deficiency of the enzyme formiminotransferase associated with mental and physical retardation and cerebral defects.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glutamate Formiminotransferase Deficiency
Role
preferred
Name
FIGLU-URIA
Role
alias
Name
FORMIMINOGLUTAMIC ACIDURIA
Role
alias
Name
FORMIMINOTRANSFERASE DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006377
Omim
229100
Umls
C0268609
Sym Map
SMDE04547
Dis Ge Net
C0268609
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Glutamate Formiminotransferase Deficiency
Tcmbank Disease
30112
Itcmdb Generated
ITX-DISEASE-E349A25372E7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Glutamate Formiminotransferase Deficiency Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Glutamate Formiminotransferase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Definition
JABL99:A deficiency of the enzyme formiminotransferase associated with mental and physical retardation and cerebral defects.
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