hereditary multiple exostoses
Information
- Disease name
- hereditary multiple exostoses
- Disease ID
- DOID:206
- Description
- "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth." [url:http\://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, url:http\://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, url:http\://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, url:http\://www.mheresearchfoundation.org/, url:http\://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:203
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q78.6
- Cross Reference ID (Disease Ontology)
- MESH:D005097
- Cross Reference ID (Disease Ontology)
- MIM:133700
- Cross Reference ID (Disease Ontology)
- MIM:133701
- Cross Reference ID (Disease Ontology)
- MIM:600209
- Cross Reference ID (Disease Ontology)
- NCI:C5183
- Cross Reference ID (Disease Ontology)
- ORDO:321
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254044004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0015306
- Exact Synonym (Disease Ontology)
- hereditary multiple exostoses 1
- Exact Synonym (Disease Ontology)
- hereditary multiple exostoses 2
- Exact Synonym (Disease Ontology)
- hereditary multiple exostoses 3
- Exact Synonym (Disease Ontology)
- Multiple congenital exostosis
- Exact Synonym (Disease Ontology)
- Multiple exostosis syndromes
- Exact Synonym (Disease Ontology)
- multiple ostechondromas
- Exact Synonym (Disease Ontology)
- Osteochondromatosis syndrome