DiseaseID 9059

幼年性结肠息肉病

disease

NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in the majority of patients. It is characterized by the presence of multiple juvenile polyps i

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Disease: 1Symptom: 4Target: 21Links: 28
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Record Fields

Scalar fields from the final disease record.

Disease Id
9059
Core Entity Id
66076
Source Entity Count
1
Preferred Name
Juvenile Polyposis Coli
Name Cn
幼年性结肠息肉病
Name Pinyin
You Nian Xing Jie Chang Xi Rou Bing
Name En
Juvenile Polyposis Coli
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNeoplasms; Pathological Conditions, Signs and Symptoms
Do Class
genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
Hpo Class Name
Do Class Name
genetic disease
Disease Definition
NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in the majority of patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.
Version
v1,v2
Suppressed
No

Names

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

Name
Juvenile Polyposis Coli
Role
preferred
Name
Juvenile Polyposis Of Stomach
Role
preferred
Name
Juvenile Polyposis Syndrome
Role
preferred
Name
Bmpr1A-Related Juvenile Polyposis
Role
preferred
Name
Chromosome 10Q23 Deletion Syndrome
Role
preferred
Name
Smad4-Related Juvenile Polyposis
Role
preferred
Name
JIP
Role
alias
Name
JPS
Role
alias
Name
JUVENILE INTESTINAL POLYPOSIS
Role
alias
Name
PJI
Role
alias
Name
POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT
Role
alias
Name
POLYPOSIS, JUVENILE INTESTINAL
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS008289HBDIS015130HBDIS018416HBDIS022086HBDIS022087HBDIS029141
Omim
174900
Umls
C0345893C1832940C1868081
Sym Map
SMDE02255SMDE10137SMDE10138
Do Class
DOID:630
Dis Ge Net
C0345893C1832940C1868081C2677102C3714239C3714240
Umls Sty
T047T191
Me Sh Class
C04C06C16C23
Etcm Disease
Juvenile Polyposis Syndrome
Tcmbank Disease
1357515301223664737129
Itcmdb Generated
ITX-DISEASE-18204C7DC5ECITX-DISEASE-B5886E074BBB

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2v2
Suppress
0
Page Title
Disease Juvenile Polyposis Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or SyndromeNeoplastic Process
Basic Information
Disease Name
Juvenile Polyposis Syndrome
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Gastrointestinal Diseases
Disease Definition
NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in the majority of patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNeoplasms; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
Umls Semantic Type Name
Disease or SyndromeNeoplastic Process