DiseaseID 3808
Camurati-Engelmann综合征
disease
NCI2016_02D:An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weak
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3808
- Core Entity Id
- 60059
- Source Entity Count
- 1
- Preferred Name
- Camurati-Engelmann Syndrome
- Name Cn
- Camurati-Engelmann综合征
- Name Pinyin
- Camurati-engelmann Zong He Zheng
- Name En
- Camurati-Engelmann Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness.|MSH2017_2016_08_12:An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.|HPO2016_07_04:An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Camurati-Engelmann Syndrome
Role
preferred
Name
Camurati-Engelmann Disease
Role
alias
Name
Progressive Diaphyseal Dysplasia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000788
Me Sh
D003966
Omim
131300
Icd10
Q78.3
Sym Map
SMDE06708
Do Class
DOID:630DOID:7
Dis Ge Net
C0011989
Umls Sty
T047
Me Sh Class
C05C16
Tcmbank Disease
4138
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness.|MSH2017_2016_08_12:An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.|HPO2016_07_04:An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome