DiseaseID 26701
黏多糖贮积症IVa型
Mucopolysaccharidosis, Type Iva
NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
Relationship Network
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Disease: 1Formula: 12Symptom: 2Target: 19Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26701
- Core Entity Id
- 119269
- Source Entity Count
- 1
- Preferred Name
- Mucopolysaccharidosis, Type Iva
- Name Cn
- 黏多糖贮积症IVa型
- Name Pinyin
- Nian Duo Tang Zhu Ji Zheng Iva Xing
- Name En
- Mucopolysaccharidosis, Type Iva
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mucopolysaccharidosis, Type Iva
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0086651
Icd10
E76.210
Sym Map
SMDE04676
Etcm Disease
Mucopolysaccharidosis, Type Iva
Itcmdb Generated
ITX-DISEASE-4EE8A35C85DA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Mucopolysaccharidosis, Type Iva Details page
Basic Information
Disease Name
Mucopolysaccharidosis, Type Iva
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.