DiseaseID 933
Miyoshi肌病
disease
NCI2016_02D:A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lo
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Target: 7Links: 7
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 933
- Core Entity Id
- 1055
- Source Entity Count
- 1
- Preferred Name
- Miyoshi Myopathy
- Name Cn
- Miyoshi肌病
- Name Pinyin
- Miyoshi Ji Bing
- Name En
- Miyoshi Myopathy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Miyoshi Myopathy
Role
preferred
Name
Miyoshi Muscular Dystrophy 1
Role
preferred
Name
MMD1
Role
alias
Name
MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE
Role
alias
Name
Miyoshi Muscular Dystrophy
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016755HBDIS027362
Omim
254130
Umls
C1850808
Sym Map
SMDE04485
Do Class
DOID:630DOID:7
Dis Ge Net
C1850808C4551973
Umls Sty
T047
Me Sh Class
C05C10C16C23
Tcmbank Disease
137819322
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs.
Me Sh Disease Class
Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome