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 48
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, and Presenile Cataracts 48
Foveal Hypoplasia and Presenile Cataract Syndrome 24
 
Foveal Hypoplasia-Presenile Cataract Syndrome 27
Foveal Hypoplasia, Presenile Cataract 48
O'donnell Pappas Syndrome 68

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 & Phenotypes 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 Syndrome27 24 PAX6

Anatomical Context for O Donnell Pappas Syndrome

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet