Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620727
http://purl.bioontology.org/ontology/OMIM/620727
|
|---|---|
| Preferred Name | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B |
| Synonyms |
UCMD1A/1B, DIGENIC
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC
UCMD1B
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
UCMD1A/1B, DIGENIC
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC
UCMD1B
|
|---|---|
| prefLabel | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
|
| Gene Symbol |
UCMD1B
COL6A2
BTHLM1B
|
| Scope Statement | Caused by mutation in the collagen VI, alpha-2 polypeptide gene (COL6A2, 120240.0002) [MOLECULAR BASIS]
Onset at birth or early childhood [MISCELLANEOUS]
A subset of patients have heterozygous mutations consistent with a dominant-negative effect [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620727
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5935582
C5935566
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |