DiseaseID 3612
外生骨疣
disease
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, wi
Relationship Network
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Disease: 1Formula: 9Herb: 12Symptom: 12Target: 23Links: 57
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3612
- Core Entity Id
- 59838
- Source Entity Count
- 2
- Preferred Name
- Exostoses
- Name Cn
- 外生骨疣
- Name Pinyin
- Wai Sheng Gu You
- Name En
- Exostoses
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the skeletal system; Neoplasm
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesMusculoskeletal Diseases
- Hpo Class Name
- Neoplasm; Abnormality of the skeletal system
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, wi
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Exostoses
Role
preferred
Name
Cherubism
Role
preferred
Name
External Exotoses
Role
preferred
Name
Fibrous Dysplasia
Role
preferred
Name
CRBM
Role
alias
Name
Exostosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0100777
Herb
HBDIS000528HBDIS001005HBDIS005482HBDIS014223
Me Sh
D002636D005096
Omim
118400
Umls
C0008029C0015302C0259779C1442903
Icd10
K10.8M27.8
Med Dra
10070535
Sym Map
SMDE03114SMDE08550SMDE08562SMDE08746
Do Class
DOID:630DOID:7
Dis Ge Net
C0008029C0015302C0259779C1442903
Orphanet
184
Umls Sty
T019T047
Hpo Class
HP:0000924HP:0002664HP:0002664;HP:0000924
Me Sh Class
C05C07C16
Etcm Disease
Cherubism
Tcmbank Disease
128002641227575324369023
Itcmdb Generated
ITX-DISEASE-5AC378102613ITX-DISEASE-D1718C2DE5D1ITX-DISEASE-F761DC9D8BC2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Cherubism Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Neoplasm; Abnormality of the skeletal system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the skeletal system; Neoplasm
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Cherubism
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Eye diseases;Oral diseases;Skin diseases
Disease Definition
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, wiNCI2016_02D:A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.NCI2016_CTCAE_1602D:A disorder characterized by non-neoplastic overgrowth of bone.|NCI2016_02D:Non-neoplastic overgrowth of bone.|MSH2017_2016_08_12:Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component.|HPO2016_07_04:An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. [HPO:probinson]
Me Sh Disease Class
Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesMusculoskeletal Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome