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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/603075
http://purl.bioontology.org/ontology/OMIM/603075
|
|---|---|
| Preferred Name | MACULAR DEGENERATION, AGE-RELATED, 1 |
| Synonyms |
ARMD1
MACULOPATHY, AGE-RELATED, 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ARMD1
MACULOPATHY, AGE-RELATED, 1
|
|---|---|
| prefLabel | MACULAR DEGENERATION, AGE-RELATED, 1
|
| Gene Symbol |
ARMD1
FIBL6
FBLN6
HMCN1
|
| Scope Statement | Susceptibility conferred by mutation in the hemicentin gene (HMCN1, 608548.0001) [MOLECULAR BASIS]
Earliest symptom onset in sixth decade of life [MISCELLANEOUS]
Diagnosis in seventh decade of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q24-q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 603075
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864205
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |