Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/616258
http://purl.bioontology.org/ontology/OMIM/616258
|
|---|---|
| Preferred Name | MECKEL SYNDROME 12 |
| Synonyms |
MKS12
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MKS12
|
|---|---|
| prefLabel | MECKEL SYNDROME 12
|
| Gene Symbol |
MKS12
MCPH20
KIF14
KIAA0042
|
| notation | 616258
|
| Scope Statement | Two fetuses from terminated pregnancies in 1 family have been reported (last curated March 2015) [MISCELLANEOUS]
Caused by mutation in the kinesin family member 14 gene (KIF14, 611279.0001) [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 | 1q31
|
| tui | T047
|
| cui | C4015701
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |