DiseaseID 4640
黏多糖贮积症
disease
NCI2016_02D:A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and sy
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4640
- Core Entity Id
- 61018
- Source Entity Count
- 1
- Preferred Name
- Mucopolysaccharidoses
- Name Cn
- 黏多糖贮积症
- Name Pinyin
- Nian Duo Tang Zhu Ji Zheng
- Name En
- Mucopolysaccharidoses
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.|MSH2017_2016_08_12:Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.|CSP2006:any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mucopolysaccharidoses
Role
preferred
Name
Mucopolysaccharidosis
Role
alias
Name
Mucopolysaccharidosis, Unspecified
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001981
Me Sh
D009083
Umls
C0026703
Icd10
E76.3
Sym Map
SMDE11128
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0026703
Umls Sty
T047
Me Sh Class
C16C17C18
Tcmbank Disease
20197
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.|MSH2017_2016_08_12:Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.|CSP2006:any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue.
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Disease or Syndrome