DiseaseID 26042
多中心骨溶解-结节病-关节病综合征
Multicentric Osteolysis, Nodulosis, And Arthropathy
NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and fe
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Disease: 1Symptom: 3Target: 19Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26042
- Core Entity Id
- 118610
- Source Entity Count
- 1
- Preferred Name
- Multicentric Osteolysis, Nodulosis, And Arthropathy
- Name Cn
- 多中心骨溶解-结节病-关节病综合征
- Name Pinyin
- Duo Zhong Xin Gu Rong Jie - Jie Jie Bing - Guan Jie Bing Zong He Zheng
- Name En
- Multicentric Osteolysis, Nodulosis, And Arthropathy
- 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 inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Multicentric Osteolysis, Nodulosis, And Arthropathy
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1850155
Sym Map
SMDE01689
Etcm Disease
Multicentric Osteolysis, Nodulosis, and Arthropathy
Itcmdb Generated
ITX-DISEASE-972F8B71ECA4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Multicentric Osteolysis, Nodulosis, and Arthropathy Details page
Basic Information
Disease Name
Multicentric Osteolysis, Nodulosis, and Arthropathy
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Skin diseases
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.