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Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/MESH/C536352
http://purl.bioontology.org/ontology/MESH/C536352
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Preferred Name | Vitreoretinochoroidopathy |
Synonyms |
ADVIRC
Autosomal dominant Vitreoretinochoroidopathy
Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
Vitreoretinochoroidopathy dominant
Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
Vitreoretinochoroidopathy, Autosomal Dominant
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
ADVIRC
Autosomal dominant Vitreoretinochoroidopathy
Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
Vitreoretinochoroidopathy dominant
Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
Vitreoretinochoroidopathy, Autosomal Dominant
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
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prefLabel | Vitreoretinochoroidopathy
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TH |
OMIM (2013)
ORD (2010)
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notation | C536352
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MMR | 20121105
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MeSH Frequency | 17
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Semantic type UMLS property | |
HM |
D012162
D015785
D015862
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Inverse of RB | 0
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Scope Statement | mutation on BEST1 protein, human
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MDA | 20100825
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SC | 3
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type | |
Mapped to | |
tui | T047
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cui |
C2674009
C3888099
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TERMUI |
T807758
T807757
T807756
T831191
T823773
T807754
T739065
T739067
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