DiseaseID 7517
联合钼黄素蛋白酶缺乏症
disease
HPO2016_07_04:Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. [HPO:probinson]
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Disease: 1Formula: 20Symptom: 5Target: 17Links: 49
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7517
- Core Entity Id
- 64319
- Source Entity Count
- 1
- Preferred Name
- Combined Molybdoflavoprotein Enzyme Deficiency
- Name Cn
- 联合钼黄素蛋白酶缺乏症
- Name Pinyin
- Lian He Mu Huang Su Dan Bai Mei Que Fa Zheng
- Name En
- Combined Molybdoflavoprotein Enzyme 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
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- HPO2016_07_04:Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. [HPO:probinson]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Combined Molybdoflavoprotein Enzyme Deficiency
Role
preferred
Name
Molybdenum Cofactor Deficiency, Complementation Group A
Role
preferred
Name
MOCODA
Role
alias
Name
Molybdenum Cofactor Deficiency
Role
alias
Name
Molybdenum Cofactor Deficiency Type A
Role
alias
Name
SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003570
Herb
HBDIS006181HBDIS017090
Omim
252150
Umls
C0268119C1854988
Sym Map
SMDE02449SMDE07358
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268119C1854988
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C16C18
Etcm Disease
Molybdenum Cofactor Deficiency, Complementation Group a
Tcmbank Disease
2431227611
Itcmdb Generated
ITX-DISEASE-A387235B276BITX-DISEASE-DACCFB9CC87A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Molybdenum Cofactor Deficiency, Complementation Group a Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Molybdenum Cofactor Deficiency, Complementation Group a
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
HPO2016_07_04:Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. [HPO:probinson]
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