Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/617052
http://purl.bioontology.org/ontology/OMIM/617052
|
|---|---|
| Preferred Name | BONE MARROW FAILURE SYNDROME 3 |
| Synonyms |
BMFS3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | BMFS3
|
|---|---|
| prefLabel | BONE MARROW FAILURE SYNDROME 3
|
| Gene Symbol |
DNAJA5
DNAJC21
BMFS3
|
| notation | 617052
|
| Scope Statement | Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 21 gene (DNAJC21, 617048.0001) [MOLECULAR BASIS]
Onset in in infancy or early childhood [MISCELLANEOUS]
Possible cancer predisposition [MISCELLANEOUS]
Bone marrow hypocellularity may improve spontaneously with age [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
|
| 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 | 5p13.2
|
| tui | T047
|
| cui | C4310744
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |