Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/600373
http://purl.bioontology.org/ontology/OMIM/600373
|
|---|---|
| Preferred Name | CODAS SYNDROME |
| Synonyms |
CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME
|
|---|---|
| prefLabel | CODAS SYNDROME
|
| Gene Symbol |
LON
PRSS15
CODASS
LONP1
|
| notation | 600373
|
| Scope Statement | CODAS is an acronym for Cerebral Ocular Dental Auricular Skeletal syndrome [MISCELLANEOUS]
Caused by mutation in the mitochondrial Lon peptidase-1 gene (LONP1, 605490.0001) [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 | 19p13.2
|
| tui | T047
|
| cui | C1838180
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
- Problem retrieving properties:
Notes
Filter:
