DiseaseID 25851
Birt-Hogg-Dubé综合征
Birt-Hogg-Dube Syndrome
NCI2016_NCI-GLOSS_1602D:An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney can
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Disease: 1Formula: 12Herb: 12Symptom: 1Target: 18Links: 49
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25851
- Core Entity Id
- 118419
- Source Entity Count
- 1
- Preferred Name
- Birt-Hogg-Dube Syndrome
- Name Cn
- Birt-Hogg-Dubé综合征
- Name Pinyin
- Birt-hogg-dubé Zong He Zheng
- Name En
- Birt-Hogg-Dube 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_NCI-GLOSS_1602D:An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney cancer.|NCI2016_02D:A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms.|MSH2017_2016_08_12:Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Birt-Hogg-Dube Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0346010
Med Dra
10067736
Sym Map
SMDE00646
Orphanet
122
Etcm Disease
Birt-Hogg-Dube Syndrome
Itcmdb Generated
ITX-DISEASE-B9688B9C54F4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Birt-Hogg-Dube Syndrome Details page
Basic Information
Disease Name
Birt-Hogg-Dube Syndrome
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Nephrological diseases;Respiratory diseases;Skin diseases
Disease Definition
NCI2016_NCI-GLOSS_1602D:An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney cancer.|NCI2016_02D:A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms.|MSH2017_2016_08_12:Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).