DiseaseID 13913
常染色体隐性遗传包涵体肌病
disease
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contrac
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 13913
- Core Entity Id
- 71623
- Source Entity Count
- 1
- Preferred Name
- Inclusion Body Myopathy, Autosomal Recessive
- Name Cn
- 常染色体隐性遗传包涵体肌病
- Name Pinyin
- Chang Ran Se Ti Yin Xing Yi Chuan Bao Han Ti Ji Bing
- Name En
- Inclusion Body Myopathy, Autosomal Recessive
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contrac
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Inclusion Body Myopathy, Autosomal Recessive
Role
preferred
Name
Gne Myopathy
Role
preferred
Name
Intellectual Disability-Developmental Delay-Contractures Syndrome
Role
preferred
Name
Myopathy Due To Calsequestrin And Serca1 Protein Overload
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015173
Umls
C0796200C1833373C1853926
Icd10
G71.8
Sym Map
SMDE00563SMDE02730SMDE04454SMDE09812
Dis Ge Net
C1833373
Orphanet
345460288635
Umls Sty
T047
Me Sh Class
C05C10
Tcmbank Disease
4024
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contracMyopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and n
Me Sh Disease Class
Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome