Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/614173
http://purl.bioontology.org/ontology/OMIM/614173
|
|---|---|
| Preferred Name | JOUBERT SYNDROME 13 |
| Synonyms |
JBTS13
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | JBTS13
|
|---|---|
| prefLabel | JOUBERT SYNDROME 13
|
| Gene Symbol |
TECT1
JBTS13
|
| notation | 614173
|
| Scope Statement | Two sibs and an unrelated fetus have been reported (last curated February 2016) [MISCELLANEOUS]
Caused by mutation in the tectonic family, member 1 gene (TCTN1, 609863.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 12q24.1
|
| tui | T047
|
| cui | C3280031
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |