DiseaseID 26484
Perlman综合征
Perlman Syndrome
NCI2016_02D:A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is
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Disease: 1Symptom: 4Target: 5Links: 9
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26484
- Core Entity Id
- 119052
- Source Entity Count
- 1
- Preferred Name
- Perlman Syndrome
- Name Cn
- Perlman综合征
- Name Pinyin
- Perlman Zong He Zheng
- Name En
- Perlman Syndrome
- 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 syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.|JABL99:A syndrome of renal dysplasia with Wilms tumor, fetal gigantism, fetal ascites, macrosomia, hyperplasia of the endocrine pancreas, typical facial appearance, and mental retardation in those who survive past early infancy. The phenotype varies and some clinical features overlap those of the Beckwith-Wiedemann syndrome
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Perlman Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796113
Sym Map
SMDE03704
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.|JABL99:A syndrome of renal dysplasia with Wilms tumor, fetal gigantism, fetal ascites, macrosomia, hyperplasia of the endocrine pancreas, typical facial appearance, and mental retardation in those who survive past early infancy. The phenotype varies and some clinical features overlap those of the Beckwith-Wiedemann syndrome