MCID: BLP021

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

Genetic diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

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

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Sources:
47Orphanet, 26ICD10 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 47
 
Blepharophimosis Types 1 and 2 Due to a Point Mutation 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
blepharophimosis - epicanthus inversus - ptosis due to a point mutation:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal


External Ids:

Orphanet47 261572
ICD10 via Orphanet26 Q10.3

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.

Related Diseases for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point...

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Diseases in the Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 family:

Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion blepharophimosis - epicanthus inversus - ptosis due to a point mutation

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:

31
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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet