DiseaseID 26522
粘脂贮积症IV型
Mucolipidosis Iv
NCI2016_02D:An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.
Relationship Network
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Disease: 1Symptom: 4Target: 17Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26522
- Core Entity Id
- 119090
- Source Entity Count
- 1
- Preferred Name
- Mucolipidosis Iv
- Name Cn
- 粘脂贮积症IV型
- Name Pinyin
- Zhan Zhi Zhu Ji Zheng Iv Xing
- Name En
- Mucolipidosis Iv
- 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:An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mucolipidosis Iv
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0238286
Icd10
E75.1
Sym Map
SMDE03913
Orphanet
578
Etcm Disease
Mucolipidosis Iv
Itcmdb Generated
ITX-DISEASE-C0BC9796DDCF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mucolipidosis Iv Details page
Basic Information
Disease Name
Mucolipidosis Iv
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.