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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620939
http://purl.bioontology.org/ontology/OMIM/620939
|
|---|---|
| Preferred Name | MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES |
| Synonyms |
MFANDO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MFANDO
|
|---|---|
| prefLabel | MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES
|
| Gene Symbol |
KAREVS
MFANDO
RBSN
ZFYVE20
|
| Scope Statement | Hematopoietic bone marrow transplant is effective for the blood abnormalities [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the rabenosyn, RAB effector gene (RBSN, 609511.0002) [MOLECULAR BASIS]
One consanguineous family has been reported (last curated September 2024) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p25.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620939
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975380
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |