Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/133700
http://purl.bioontology.org/ontology/OMIM/133700
|
|---|---|
| Preferred Name | EXOSTOSES, MULTIPLE, TYPE I |
| Synonyms |
EXT1
MULTIPLE CARTILAGINOUS EXOSTOSES
OSTEOCHONDROMATOSIS
DIAPHYSEAL ACLASIS
EXT
MULTIPLE OSTEOCHONDROMAS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EXT1
MULTIPLE CARTILAGINOUS EXOSTOSES
OSTEOCHONDROMATOSIS
DIAPHYSEAL ACLASIS
EXT
MULTIPLE OSTEOCHONDROMAS
See more
See less
|
|---|---|
| prefLabel |
EXOSTOSES, MULTIPLE, TYPE I
|
| Gene Symbol |
EXT1
|
| notation |
133700
|
| Scope Statement |
Lesions continue to grow until epiphyseal plate closure [MISCELLANEOUS]
More severe in males than in females [MISCELLANEOUS]
Onset early childhood [MISCELLANEOUS]
Caused by mutation in the exostosin 1 gene (EXT1, 608177.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
8q24.11-q24.13
|
| tui |
T019
|
| cui |
C0015306
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |