Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619433
http://purl.bioontology.org/ontology/OMIM/619433
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 |
| Synonyms |
RCM6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | RCM6
|
|---|---|
| prefLabel | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6
|
| Gene Symbol |
RAB6KIFL
KIF20A
RCM6
|
| Scope Statement | Based on report of 2 affected sibs (last curated July 2021) [MISCELLANEOUS]
Caused by mutation in the kinesin family member 20A gene (KIF20A, 605664.0001) [MOLECULAR BASIS]
Early mortality [MISCELLANEOUS]
Progressive biventricular deterioration of cardiac function [MISCELLANEOUS]
Prenatal onset [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 5q31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619433
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543638
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |