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MCID: RTN211
MIFTS: 17
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Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract
Categories:
Genetic diseases, Eye diseases, Rare diseases
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Aliases & Classifications for Retinal Dystrophy and Iris Coloboma with or Without Congenital...
MalaCards integrated aliases for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
based on report of one 5-generation family (last curated december 2015) HPO:32
retinal dystrophy and iris coloboma with or without congenital cataract:
Inheritance autosomal dominant inheritance Classifications: |
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MalaCards based summary
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Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract, is also known as familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome. An important gene associated with Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract is MIR204 (MicroRNA 204). Affiliated tissues include eye, and related phenotypes are congenital cataract and retinal atrophy
Description from OMIM:
616722
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616722Human phenotypes related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:32
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MalaCards organs/tissues related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:41
Eye
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Genes related to Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract:6
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Search
GEO
for disease gene expression data for Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract.
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