MCID: SYN146
MIFTS: 5

Syndromic Eyelid Coloboma

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Eyelid Coloboma

MalaCards integrated aliases for Syndromic Eyelid Coloboma:

Name: Syndromic Eyelid Coloboma 58
Syndromic Palpebral Coloboma 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA98566

Summaries for Syndromic Eyelid Coloboma

MalaCards based summary : Syndromic Eyelid Coloboma, also known as syndromic palpebral coloboma, is related to nasopalpebral lipoma-coloboma syndrome. Affiliated tissues include eye.

Related Diseases for Syndromic Eyelid Coloboma

Diseases related to Syndromic Eyelid Coloboma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nasopalpebral lipoma-coloboma syndrome 11.4

Symptoms & Phenotypes for Syndromic Eyelid Coloboma

Drugs & Therapeutics for Syndromic Eyelid Coloboma

Search Clinical Trials , NIH Clinical Center for Syndromic Eyelid Coloboma

Genetic Tests for Syndromic Eyelid Coloboma

Anatomical Context for Syndromic Eyelid Coloboma

MalaCards organs/tissues related to Syndromic Eyelid Coloboma:

40
Eye

Publications for Syndromic Eyelid Coloboma

Variations for Syndromic Eyelid Coloboma

Expression for Syndromic Eyelid Coloboma

Search GEO for disease gene expression data for Syndromic Eyelid Coloboma.

Pathways for Syndromic Eyelid Coloboma

GO Terms for Syndromic Eyelid Coloboma

Sources for Syndromic Eyelid Coloboma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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