MCID: ODN003
MIFTS: 13

O Donnell Pappas Syndrome malady

Summaries for O Donnell Pappas Syndrome

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32MalaCards
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MalaCards: O Donnell Pappas Syndrome, also known as foveal hypoplasia, presenile cataract, is related to foveal hyperplasia and aniridia. An important gene associated with O Donnell Pappas Syndrome is PAX6 (paired box 6).

Aliases & Classifications for O Donnell Pappas Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

o donnell pappas syndrome 42
foveal hypoplasia, presenile cataract 42 20 22
foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts 42
o'donnell pappas syndrome 60


Related Diseases for O Donnell Pappas Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to O Donnell Pappas Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1foveal hyperplasia10.5
2aniridia10.0PAX6
3peters plus syndrome10.0PAX6

Clinical Features for O Donnell Pappas Syndrome

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Drugs & Therapeutics for O Donnell Pappas Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for O Donnell Pappas Syndrome

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20GeneTests, 22GTR
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Genetic tests related to O Donnell Pappas Syndrome:

id Genetic test Affiliating Genes
1 Foveal Hypoplasia and Presenile Cataract Syndrome20 22 PAX6

Anatomical Context for O Donnell Pappas Syndrome

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Animal Models for O Donnell Pappas Syndrome or affiliated genes

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Publications for O Donnell Pappas Syndrome

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Genetic Variations for O Donnell Pappas Syndrome

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Expression for genes affiliated with O Donnell Pappas Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with O Donnell Pappas Syndrome

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Pathways for genes affiliated with O Donnell Pappas Syndrome

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Compounds for genes affiliated with O Donnell Pappas Syndrome

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GO Terms for genes affiliated with O Donnell Pappas Syndrome

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Products for genes affiliated with O Donnell Pappas Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for O Donnell Pappas Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet