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

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

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MalaCards based summary: 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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Sources:
48Orphanet, 27ICD10 via Orphanet
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Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation, Aliases & Descriptions:

Name: Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 48
 
Blepharophimosis Types 1 and 2 Due to a Point Mutation 48


Classifications:



External Ids:

ICD10 via Orphanet27 Q10.3

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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Drug clinical trials:

Search ClinicalTrials for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

Search NIH Clinical Center for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation

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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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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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
  • Proteins
  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet