MCID: DVL026
MIFTS: 9

Developmental Defect of the Eye

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Developmental Defect of the Eye

MalaCards integrated aliases for Developmental Defect of the Eye:

Name: Developmental Defect of the Eye 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA98553

Summaries for Developmental Defect of the Eye

MalaCards based summary : Developmental Defect of the Eye is related to genetic developmental defect of the eye and coloboma of macula. An important gene associated with Developmental Defect of the Eye is PAX6 (Paired Box 6). Affiliated tissues include eye.

Related Diseases for Developmental Defect of the Eye

Graphical network of the top 20 diseases related to Developmental Defect of the Eye:



Diseases related to Developmental Defect of the Eye

Symptoms & Phenotypes for Developmental Defect of the Eye

Drugs & Therapeutics for Developmental Defect of the Eye

Search Clinical Trials , NIH Clinical Center for Developmental Defect of the Eye

Genetic Tests for Developmental Defect of the Eye

Anatomical Context for Developmental Defect of the Eye

MalaCards organs/tissues related to Developmental Defect of the Eye:

40
Eye

Publications for Developmental Defect of the Eye

Articles related to Developmental Defect of the Eye:

# Title Authors PMID Year
1
ABCB6 mutations cause ocular coloboma. 61
22226084 2012

Variations for Developmental Defect of the Eye

Expression for Developmental Defect of the Eye

Search GEO for disease gene expression data for Developmental Defect of the Eye.

Pathways for Developmental Defect of the Eye

GO Terms for Developmental Defect of the Eye

Sources for Developmental Defect of the Eye

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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