DiseaseID 17256

线粒体进行性肌病伴先天性白内障、听力丧失和发育迟缓

disease

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Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Formula: 5Symptom: 3Target: 19Links: 32
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Record Fields

Scalar fields from the final disease record.

Disease Id
17256
Core Entity Id
75460
Source Entity Count
1
Preferred Name
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Name Cn
线粒体进行性肌病伴先天性白内障、听力丧失和发育迟缓
Name Pinyin
Xian Li Ti Jin Xing Xing Ji Bing Ban Xian Tian Xing Bai Nei Zhang 、 Ting Li Sang Shi He Fa Yu Chi Huan
Name En
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal Diseases
Do Class
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases
Hpo Class Name
Do Class Name
Disease Definition
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Role
preferred
Name
MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED
Role
alias
Name
MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS019933
Omim
613076
Umls
C2751320
Sym Map
SMDE00782
Dis Ge Net
C2751320
Umls Sty
T047
Me Sh Class
C05C09C10C11C18C23F03
Etcm Disease
Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay
Tcmbank Disease
29772
Itcmdb Generated
ITX-DISEASE-60A13C9BB801

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases
Me Sh Disease Class
Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome