DiseaseID 18545
三功能蛋白缺乏症2型
disease
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symp
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Disease: 1Symptom: 3Target: 19Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 18545
- Core Entity Id
- 76958
- Source Entity Count
- 1
- Preferred Name
- Trifunctional Protein Deficiency, Type 2
- Name Cn
- 三功能蛋白缺乏症2型
- Name Pinyin
- San Gong Neng Dan Bai Que Fa Zheng 2 Xing
- Name En
- Trifunctional Protein Deficiency, Type 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormal cellular phenotype
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormal cellular phenotype
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Trifunctional Protein Deficiency, Type 2
Role
preferred
Name
Decreased Activity of 3-Hydroxyacyl-Coa Dehydrogenase
Role
preferred
Name
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Role
preferred
Name
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Role
preferred
Name
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Role
preferred
Name
Long Chain 3 Hydroxyacyl Coa Dehydrogenase Deficiency
Role
alias
Name
Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
Role
alias
Name
Mitochondrial Trifunctional Protein Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0100950
Herb
HBDIS018763HBDIS022078HBDIS022085HBDIS026657
Omim
609015609016
Umls
C1969443
Sym Map
SMDE01010
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1969443C3711645C3714237C4477062
Umls Sty
T033T047
Hpo Class
HP:0001939HP:0025354
Me Sh Class
C05C10C14C16C18
Etcm Disease
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Tcmbank Disease
288063051596359985
Itcmdb Generated
ITX-DISEASE-36728FA8526F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormal cellular phenotype
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormal cellular phenotype
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Liver diseases;Neuronal diseases;Reproductive diseases
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or SyndromeFinding