MCID: BLP021
MIFTS: 10

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

Genetic diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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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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49Orphanet, 26ICD10 via Orphanet
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Related Diseases for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Symptoms 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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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:

33
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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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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2BioGPS, 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

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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet