MCID: ODN003
MIFTS: 11

O Donnell Pappas Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for O Donnell Pappas Syndrome

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Aliases & Descriptions for O Donnell Pappas Syndrome:

Name: O Donnell Pappas Syndrome 47
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, and Presenile Cataracts 47
Foveal Hypoplasia and Presenile Cataract Syndrome 24
 
Foveal Hypoplasia-Presenile Cataract Syndrome 26
Foveal Hypoplasia, Presenile Cataract 47
O'donnell Pappas Syndrome 67

Classifications:



Summaries for O Donnell Pappas Syndrome

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MalaCards based summary: O Donnell Pappas Syndrome, also known as foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts, is related to foveal hypoplasia 1. An important gene associated with O Donnell Pappas Syndrome is PAX6 (Paired Box 6).

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1foveal hypoplasia 111.4

Symptoms for O Donnell Pappas Syndrome

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Drugs & Therapeutics for O Donnell Pappas Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome26 24 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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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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GO Terms for genes affiliated with O Donnell Pappas Syndrome

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Sources for O Donnell Pappas Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet