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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619151
http://purl.bioontology.org/ontology/OMIM/619151
|
|---|---|
| Preferred Name | AMED SYNDROME, DIGENIC |
| Synonyms |
BMFS7
ALDEHYDE DEGRADATION DEFICIENCY SYNDROME
AMEDS
BONE MARROW FAILURE SYNDROME 7, DIGENIC
ADDS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BMFS7
ALDEHYDE DEGRADATION DEFICIENCY SYNDROME
AMEDS
BONE MARROW FAILURE SYNDROME 7, DIGENIC
ADDS
|
|---|---|
| prefLabel | AMED SYNDROME, DIGENIC
|
| Gene Symbol |
ADH5
AMEDS
BMFS7
FDH
|
| Scope Statement | Bone marrow transplant may be curative [MISCELLANEOUS]
Digenic inheritance [MISCELLANEOUS]
Caused by simultaneous homozygous mutation in the alcohol dehydrogenase 5, chi polypeptide gene (ADH5, 103710.0001) and the aldehyde dehydrogenase 2 family gene (ALDH2, 100650.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q21-q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619151
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436906
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |