MCID: PHK009
MIFTS: 6

Phakomatosis Cesiomarmorata

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Phakomatosis Cesiomarmorata

MalaCards integrated aliases for Phakomatosis Cesiomarmorata:

Name: Phakomatosis Cesiomarmorata 58
Phakomatosis Pigmentovascularis Type 5 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q85.8
Orphanet 58 ORPHA79484

Summaries for Phakomatosis Cesiomarmorata

MalaCards based summary : Phakomatosis Cesiomarmorata, is also known as phakomatosis pigmentovascularis type 5. An important gene associated with Phakomatosis Cesiomarmorata is GNA11 (G Protein Subunit Alpha 11). Affiliated tissues include eye.

Related Diseases for Phakomatosis Cesiomarmorata

Symptoms & Phenotypes for Phakomatosis Cesiomarmorata

Drugs & Therapeutics for Phakomatosis Cesiomarmorata

Search Clinical Trials , NIH Clinical Center for Phakomatosis Cesiomarmorata

Genetic Tests for Phakomatosis Cesiomarmorata

Anatomical Context for Phakomatosis Cesiomarmorata

MalaCards organs/tissues related to Phakomatosis Cesiomarmorata:

40
Eye

Publications for Phakomatosis Cesiomarmorata

Variations for Phakomatosis Cesiomarmorata

Expression for Phakomatosis Cesiomarmorata

Search GEO for disease gene expression data for Phakomatosis Cesiomarmorata.

Pathways for Phakomatosis Cesiomarmorata

GO Terms for Phakomatosis Cesiomarmorata

Sources for Phakomatosis Cesiomarmorata

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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