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:
51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation:

Name: Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 51
 
Blepharophimosis Types 1 and 2 Due to a Point Mutation 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
blepharophimosis - epicanthus inversus - ptosis due to a point mutation:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal


External Ids:

Orphanet51 261572
ICD10 via Orphanet28 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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Interventional clinical trials:

Search ClinicalTrials, 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:

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet