MCID: DVL026
MIFTS: 9

Developmental Defect of the Eye

Categories: 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 59

Classifications:



External Ids:

Orphanet 59 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 obsolete: syndromic developmental defect of the eye. 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:

41
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. 38
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....