MCID: ODN003
MIFTS: 12

O Donnell Pappas Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for O Donnell Pappas Syndrome

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MalaCards based summary: O Donnell Pappas Syndrome, also known as foveal hypoplasia, presenile cataract, is related to foveal hypoplasia 1. 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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O Donnell Pappas Syndrome, Aliases & Descriptions:

Name: 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 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for O Donnell Pappas Syndrome

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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 hypoplasia 110.6

Symptoms for O Donnell Pappas Syndrome

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Drugs & Therapeutics for O Donnell Pappas Syndrome

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Drug clinical trials:

Search ClinicalTrials for O Donnell Pappas Syndrome

Search NIH Clinical Center for O Donnell Pappas Syndrome

Genetic Tests for O Donnell Pappas Syndrome

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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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Variations for O Donnell Pappas Syndrome

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Expression for genes affiliated with O Donnell Pappas Syndrome

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Expression patterns in normal tissues for genes affiliated with O Donnell Pappas Syndrome

Search GEO for disease gene expression data for O Donnell Pappas Syndrome.

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet