DiseaseID 26692

婴儿肾病型胱氨酸贮积症

Nephropathic Infantile Cystinosis

Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes dam

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Disease: 1Symptom: 9Target: 12Links: 21
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Record Fields

Scalar fields from the final disease record.

Disease Id
26692
Core Entity Id
119260
Source Entity Count
1
Preferred Name
Nephropathic Infantile Cystinosis
Name Cn
婴儿肾病型胱氨酸贮积症
Name Pinyin
Ying Er Shen Bing Xing Guang An Suan Zhu Ji Zheng
Name En
Nephropathic Infantile Cystinosis
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
Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes dam
Version
v1,v2
Suppressed
No

Names

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

Name
Nephropathic Infantile Cystinosis
Role
preferred
Source
SymMap_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Umls
C3537440
Sym Map
SMDE04645
Orphanet
411629

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Disease Definition
Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes dam