Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609115
http://purl.bioontology.org/ontology/OMIM/609115
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 |
| Synonyms |
LGMDD3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G
LGMD1G
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LGMDD3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G
LGMD1G
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
|
| Gene Symbol |
JKTBP
HNRPDL
LGMDD3
HNRNPDL
|
| Scope Statement | Caused by mutation in the heterogeneous nuclear ribonucleoprotein D-like protein gene (HNRNPDL, 607137.0001) [MOLECULAR BASIS]
Slow progression [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Mild disease course [MISCELLANEOUS]
Two unrelated families have been reported (last curated August 2014) [MISCELLANEOUS]
Adult onset (range 15 to 53 years) [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 4q21.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609115
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1836765
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |