MCID: MCR346
MIFTS: 13

Microphthalmia, Isolated, with Coloboma 2

Categories: Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 2

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 2:

Name: Microphthalmia, Isolated, with Coloboma 2 57 13 73
Microphthalmia, Colobomatous, Isolated 2; Mcopcb2 57
Microphthalmia, Colobomatous, Isolated 2 57
Microphthalmia with Coloboma 2 57
Mcopcb2 57

Classifications:



External Ids:

OMIM 57 605738
MedGen 42 C1854018
UMLS 73 C1854018

Summaries for Microphthalmia, Isolated, with Coloboma 2

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 2, also known as microphthalmia, colobomatous, isolated 2; mcopcb2, is related to microphthalmia and coloboma of macula. An important gene associated with Microphthalmia, Isolated, with Coloboma 2 is MCOPCB2 (Microphthalmia, Colobomatous, 2).

Description from OMIM: 605738

Related Diseases for Microphthalmia, Isolated, with Coloboma 2

Diseases in the Microphthalmia, Isolated, with Coloboma 3 family:

Microphthalmia, Isolated, with Coloboma 4 Microphthalmia, Isolated, with Coloboma 1
Microphthalmia, Isolated, with Coloboma 2 Microphthalmia, Isolated, with Coloboma 5
Microphthalmia, Isolated, with Coloboma 6 Microphthalmia, Isolated, with Coloboma 7
Microphthalmia, Isolated, with Coloboma 9 Microphthalmia, Isolated, with Coloboma 10

Diseases related to Microphthalmia, Isolated, with Coloboma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 11.0
2 coloboma of macula 10.9
3 colobomatous microphthalmia 10.9

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 2

Clinical features from OMIM:

605738

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 2

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 2

Genetic Tests for Microphthalmia, Isolated, with Coloboma 2

Anatomical Context for Microphthalmia, Isolated, with Coloboma 2

Publications for Microphthalmia, Isolated, with Coloboma 2

Variations for Microphthalmia, Isolated, with Coloboma 2

Expression for Microphthalmia, Isolated, with Coloboma 2

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 2.

Pathways for Microphthalmia, Isolated, with Coloboma 2

GO Terms for Microphthalmia, Isolated, with Coloboma 2

Sources for Microphthalmia, Isolated, with Coloboma 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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