MCID: PHK009
MIFTS: 8

Phakomatosis Cesiomarmorata

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

Aliases & Classifications for Phakomatosis Cesiomarmorata

MalaCards integrated aliases for Phakomatosis Cesiomarmorata:

Name: Phakomatosis Cesiomarmorata 59
Phakomatosis Pigmentovascularis Type 5 59

Classifications:



External Ids:

Orphanet 59 ORPHA79484
ICD10 via Orphanet 34 Q85.8

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 skin and 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:

41
Skin, 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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