DiseaseID 25892

多发性外生骨疣Ⅰ型

Exostoses, Multiple, Type I

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Disease: 1Symptom: 4Target: 19Links: 28

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Record Fields

Scalar fields from the final disease record.

Disease Id: 25892
Core Entity Id: 118460
Source Entity Count: 1
Preferred Name: Exostoses, Multiple, Type I
Name Cn: 多发性外生骨疣Ⅰ型
Name Pinyin: Duo Fa Xing Wai Sheng Gu You Ⅰ Xing
Name En: Exostoses, Multiple, Type I
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:Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.|MSH2017_2016_08_12:Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.|HPO2016_07_04:Presence of more than one exostosis. 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]
Version: v1,v2
Suppressed: No

Names

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

Name

Exostoses, Multiple, Type I

Role

preferred

Cross References

Trusted external identifiers retained for this final record.

Umls

C0015306

Sym Map

SMDE00848

Etcm Disease

Exostoses, Multiple, Type I

Itcmdb Generated

ITX-DISEASE-07EBF2C19526

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2

Suppress

Page Title

Disease Exostoses, Multiple, Type I Details page

Basic Information

Disease Name

Exostoses, Multiple, Type I

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases

Disease Definition

NCI2016_02D:Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.|MSH2017_2016_08_12:Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.|HPO2016_07_04:Presence of more than one exostosis. 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]