MCID: BLP021

Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation malady

Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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MalaCards: Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation, is also known as blepharophimosis types 1 and 2 due to a point mutation An important gene associated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation is FOXL2 (forkhead box L2). Affiliated tissues include eye.

Aliases & Classifications for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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48Orphanet, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

blepharophimosis - epicanthus inversus - ptosis due to a point mutation 48
blepharophimosis types 1 and 2 due to a point mutation 48


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ICD10 via Orphanet26 Q10.3

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Clinical Features for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Drugs & Therapeutics for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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

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Genetic Tests for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Anatomical Context for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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MalaCards organs/tissues related to Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation:

32
Eye

Animal Models for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point... or affiliated genes

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Publications for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Genetic Variations for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Expression for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

Search GEO for disease gene expression data for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation.

Pathways for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Compounds for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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GO Terms for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Products for genes affiliated with Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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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