DiseaseID 925
包涵体肌病伴早发性Paget病和额颞叶痴呆
disease
NCI2016_02D:A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and
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Disease: 1Formula: 6Herb: 12Symptom: 7Target: 18Links: 49
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 925
- Core Entity Id
- 1044
- Source Entity Count
- 1
- Preferred Name
- Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
- Name Cn
- 包涵体肌病伴早发性Paget病和额颞叶痴呆
- Name Pinyin
- Bao Han Ti Ji Bing Ban Zao Fa Xing Paget Bing He E Nie Ye Chi Dai
- Name En
- Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- syndrome; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
- Hpo Class Name
- Do Class Name
- genetic disease; syndrome
- Disease Definition
- NCI2016_02D:A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Role
preferred
Name
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Role
preferred
Name
Inclusion Body Myopathy With Early-Onset Paget Disease of Bone With Or Without Frontotemporal Dementia 1
Role
alias
Name
Inclusion Body Myopathy With Paget Disease of Bone And Frontotemporal Dementia
Role
alias
Name
Pagetoid Amyotrophic Lateral Sclerosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015190HBDIS027346
Omim
167320
Umls
C1833662
Sym Map
SMDE01684
Do Class
DOID:225DOID:630
Dis Ge Net
C1833662C4551951
Umls Sty
T047
Me Sh Class
C05C10C16C18F03
Etcm Disease
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1
Tcmbank Disease
2082628152
Itcmdb Generated
ITX-DISEASE-CBC3414EE827
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 Details page
Do Class Name
genetic disease; syndrome
Disease Type
disease
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1
Global Category
Genetic diseases
Anatomical Category
Bone diseases;Mental diseases
Disease Definition
NCI2016_02D:A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
Umls Semantic Type Name
Disease or Syndrome