DiseaseID 9598
Ullrich先天性肌营养不良1型
disease
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle
Relationship Network
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Disease: 1Symptom: 8Target: 12Links: 20
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9598
- Core Entity Id
- 66691
- Source Entity Count
- 1
- Preferred Name
- Ullrich Congenital Muscular Dystrophy 1
- Name Cn
- Ullrich先天性肌营养不良1型
- Name Pinyin
- Ullrich Xian Tian Xing Ji Ying Yang Bu Liang 1 Xing
- Name En
- Ullrich Congenital Muscular Dystrophy 1
- 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 disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ullrich Congenital Muscular Dystrophy 1
Role
preferred
Name
MUSCULAR DYSTROPHY, SCLEROATONIC
Role
alias
Name
Scleroatonic Muscular Dystrophy
Role
alias
Name
UCMD
Role
alias
Name
UCMD1
Role
alias
Name
ULLRICH CONGENITAL MUSCULAR DYSTROPHY
Role
alias
Name
ULLRICH DISEASE
Role
alias
Name
ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009039
Omim
254090
Umls
C0410179
Sym Map
SMDE00795
Do Class
DOID:630DOID:7
Dis Ge Net
C0410179
Umls Sty
T047
Me Sh Class
C05C10C16C23
Tcmbank Disease
11282
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
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 disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints.
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