DiseaseID 4022
生物素缺乏症
disease
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficu
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Disease: 1Symptom: 12Target: 24Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4022
- Core Entity Id
- 60307
- Source Entity Count
- 1
- Preferred Name
- Biotin Deficiency
- Name Cn
- 生物素缺乏症
- Name Pinyin
- Sheng Wu Su Que Fa Zheng
- Name En
- Biotin 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 DiseasesNutritional and Metabolic Diseases
- Do Class
- disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolismdisease of metabolism; genetic disease
- Disease Definition
- Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficu
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Biotin Deficiency
Role
preferred
Name
Folic Acid Deficiency
Role
preferred
Name
Holocarboxylase Synthetase Deficiency
Role
preferred
Name
Vitamin B 12 Deficiency
Role
preferred
Name
Biotinidase Deficiency
Role
preferred
Name
Early-onset Multiple Carboxylase Deficiency
Role
alias
Name
Folate Deficiency
Role
alias
Name
HLCS DEFICIENCY
Role
alias
Name
MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Role
alias
Name
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM
Role
alias
Name
Neonatal Multiple Carboxylase Deficiency
Role
alias
Name
Vitamin B9 Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0100502HP:0100507
Herb
HBDIS001090HBDIS003118HBDIS004524HBDIS006367HBDIS006398
Me Sh
D005494D014806D028921D028922
Omim
253260253270
Umls
C0016412C0042847C0220754C0268581C0268680C1854698
Icd10
E53.8
Med Dra
10071434
Sym Map
SMDE00826SMDE02958SMDE06439SMDE08795SMDE14304
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0016412C0042847C0220754C0268581C0268680
Orphanet
7924179242
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C16C18
Etcm Disease
Biotinidase DeficiencyHolocarboxylase Synthetase Deficiency
Tcmbank Disease
186562123926877322329818
Itcmdb Generated
ITX-DISEASE-F04A5DC19B2DITX-DISEASE-FED83D6B79B6
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Biotinidase Deficiency Details pageDisease Holocarboxylase Synthetase Deficiency Details page
Do Class Name
disease of metabolismdisease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
disease of metabolismgenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Biotinidase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Name
Holocarboxylase Synthetase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Definition
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficuHolocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is charMSH2017_2016_08_12:A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)|HPO2016_07_04:A reduced concentration of folic acid, which is also known as vitamin B9. [HPO:probinson]|CSP2006:state in which folate is absent or in diminished amount relative to the normal requirement of an organism or a biologic system.MSH2017_2016_08_12:A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)|CSP2006:condition due to a deficiency of vitamin B12.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome