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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/300600
http://purl.bioontology.org/ontology/OMIM/300600
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Preferred Name | ALAND ISLAND EYE DISEASE |
Synonyms |
FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
AIED
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
AIED
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prefLabel |
ALAND ISLAND EYE DISEASE
|
Gene Symbol |
CORDX3
CSNB2
AIED
CSNB2A
CACNA1F
OA2
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|
notation |
300600
|
OMIM MimType Value |
pound
|
Semantic type UMLS property | |
OMIM Entry Type |
3
|
type | |
MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
Gene Locus |
Xp11.23
|
tui |
T047
|
cui |
C0268505
|
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