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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/121800
http://purl.bioontology.org/ontology/OMIM/121800
|
|---|---|
| Preferred Name | SCHNYDER CORNEAL DYSTROPHY |
| Synonyms |
SCHNYDER CRYSTALLINE CORNEAL DYSTROPHY
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
CORNEAL DYSTROPHY, SCHNYDER
SCCD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SCHNYDER CRYSTALLINE CORNEAL DYSTROPHY
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
CORNEAL DYSTROPHY, SCHNYDER
SCCD
|
|---|---|
| prefLabel | SCHNYDER CORNEAL DYSTROPHY
|
| Gene Symbol |
UBIAD1
SCCD
TERE1
|
| notation | 121800
|
| OMIM MimType Value | pound
|
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1p36.3
|
| tui | T047
|
| cui | C0271287
|
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