Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614675
http://purl.bioontology.org/ontology/OMIM/614675
|
|---|---|
| Preferred Name | BONE MARROW FAILURE SYNDROME 1 |
| Synonyms |
BMFS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | BMFS1
|
|---|---|
| prefLabel | BONE MARROW FAILURE SYNDROME 1
|
| Gene Symbol |
SRP72
BMFS1
|
| Scope Statement | Caused by mutation in the 72-kD signal recognition particle gene (SRP72. 602122.0001) [MOLECULAR BASIS]
Two unrelated families have been reported (last curated June 2012) [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 4q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614675
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3808553
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |