Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Retinal dystrophy and iris coloboma with or without cataract 616722
Tags
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- RetNet
Phenotypes
- ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722
- familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
- MONDO:0014747
Tags
- locus-type-rna-micro
- Q3_23_NHS_review
- Q3_23_promote_green
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722
- familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
- MONDO:0014747
Tags
- Q3_23_promote_green
- locus-type-rna-micro
- Q3_23_NHS_review
|