DiseaseID 26370
肾病综合征1型
Nephrotic Syndrome, Type 1
NCI2016_NICHD_1602D:Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.|NCI2016_02D:Nephrotic syndrome attr
Relationship Network
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26370
- Core Entity Id
- 118938
- Source Entity Count
- 1
- Preferred Name
- Nephrotic Syndrome, Type 1
- Name Cn
- 肾病综合征1型
- Name Pinyin
- Shen Bing Zong He Zheng 1 Xing
- Name En
- Nephrotic Syndrome, Type 1
- 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_NICHD_1602D:Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.|NCI2016_02D:Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.(NICHD)
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Nephrotic Syndrome, Type 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0403399
Icd10
N04.8
Med Dra
10060740
Sym Map
SMDE03142
Orphanet
839
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_NICHD_1602D:Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.|NCI2016_02D:Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.(NICHD)