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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619767
http://purl.bioontology.org/ontology/OMIM/619767
|
|---|---|
| Preferred Name | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6 |
| Synonyms |
PFBMFT6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PFBMFT6
|
|---|---|
| prefLabel | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
|
| Gene Symbol |
RPA1
PFBMFT6
|
| Scope Statement | De novo mutation (in some patients) [MISCELLANEOUS]
Four unrelated patients have been reported (last curated February 2022) [MISCELLANEOUS]
Caused by mutation in the replication protein A1, 70-kb gene (RPA1, 179835.0001) [MOLECULAR BASIS]
Variable age at onset (range infancy to adult) [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Variable severity and manifestations [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619767
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676927
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |