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ODRMD
MCID: OPT058
MIFTS: 18
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Optic Disc Anomalies with Retinal and/or Macular Dystrophy (ODRMD)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:
Characteristics:Orphanet epidemiological data:59
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; HPO:32
optic disc anomalies with retinal and/or macular dystrophy:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases
ICD10:
34
33
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UniProtKB/Swiss-Prot
:
75
Optic disk anomalies with retinal and/or macular dystrophy: An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.
MalaCards based summary : Optic Disc Anomalies with Retinal and/or Macular Dystrophy, is also known as odrmd. An important gene associated with Optic Disc Anomalies with Retinal and/or Macular Dystrophy is SIX6 (SIX Homeobox 6). Affiliated tissues include eye, and related phenotypes are nystagmus and cataract
Description from OMIM:
212550
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:212550Human phenotypes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:32 (show all 11)
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MalaCards organs/tissues related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:41
Eye
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ClinVar genetic disease variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:6
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Search
GEO
for disease gene expression data for Optic Disc Anomalies with Retinal and/or Macular Dystrophy.
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