DiseaseID 943
线粒体DNA耗竭综合征1型
disease
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can app
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Disease: 1Symptom: 12Target: 24Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 943
- Core Entity Id
- 1066
- Source Entity Count
- 1
- Preferred Name
- Mitochondrial Dna Depletion Syndrome 1
- Name Cn
- 线粒体DNA耗竭综合征1型
- Name Pinyin
- Xian Li Ti Dna Hao Jie Zong He Zheng 1 Xing
- Name En
- Mitochondrial DNA Depletion Syndrome 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can appear in infancy, but they often begin by age twenty. The gastrointestinal signs and symptoms result from gastrointestinal dysmotility and include fullness after eating small amounts of food, dysphagia, nausea and vomiting after eating, abdominal pain, diarrhea, and intestinal blockage. The nervous system abnormalities include leukoencephalopathy, tingling, numbness, peripheral neuropathy, ptosis, ophthalmoplegia, and hearing loss.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mitochondrial Dna Depletion Syndrome 1
Role
preferred
Name
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Role
preferred
Name
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Role
preferred
Name
Mitochondrial Dna Depletion Syndrome 8A
Role
preferred
Name
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
Role
preferred
Name
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
Role
preferred
Name
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
Role
preferred
Name
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2B-Related
Role
preferred
Name
Visceral Myopathy Familial External Ophthalmoplegia
Role
preferred
Name
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED
Role
alias
Name
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED
Role
alias
Name
MNGIE, POLG-RELATED
Role
alias
Name
MNGIE, TYMP-RELATED
Role
alias
Name
MTDPS1
Role
alias
Name
MTDPS4B
Role
alias
Name
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
Role
alias
Name
Mitochondrial Dna Depletion Syndrome 4B
Role
alias
Name
Mitochondrial Dna Depletion Syndrome 8B
Role
alias
Name
POLIP SYNDROME
Role
alias
Name
POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
Role
alias
Name
Visceral Myopathy, Familial, With External Ophthalmoplegia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS012270HBDIS016479HBDIS019818HBDIS020620HBDIS020710HBDIS027379
Omim
277320603041612075613662
Umls
C0872218C2749861C2749862C3150172C3150914C3711125
Sym Map
SMDE02218SMDE02942SMDE04348SMDE11040SMDE11043
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0872218C1848586C2749861C3150172C3150914C4551995
Umls Sty
T047
Me Sh Class
C05C06C10C16
Etcm Disease
Mitochondrial Dna Depletion Syndrome 1Mitochondrial Dna Depletion Syndrome 8a
Tcmbank Disease
100916015194312523259537972
Itcmdb Generated
ITX-DISEASE-07CB6E619E52ITX-DISEASE-2ACD341491D1ITX-DISEASE-38E120728AA3ITX-DISEASE-A0DBF78FCCEFITX-DISEASE-E8142BFD574B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Mitochondrial Dna Depletion Syndrome 1 Details pageDisease Mitochondrial Dna Depletion Syndrome 8a Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Mitochondrial Dna Depletion Syndrome 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Mitochondrial Dna Depletion Syndrome 8a
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can appear in infancy, but they often begin by age twenty. The gastrointestinal signs and symptoms result from gastrointestinal dysmotility and include fullness after eating small amounts of food, dysphagia, nausea and vomiting after eating, abdominal pain, diarrhea, and intestinal blockage. The nervous system abnormalities include leukoencephalopathy, tingling, numbness, peripheral neuropathy, ptosis, ophthalmoplegia, and hearing loss.
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome