MCID: XLN221
MIFTS: 6

X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome

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

Aliases & Classifications for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

MalaCards integrated aliases for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome:

Name: X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 60

Classifications:



External Ids:

Orphanet 60 ORPHA482606

Summaries for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

MalaCards based summary : X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome An important gene associated with X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome is FLNA (Filamin A). Affiliated tissues include skin and eye.

Related Diseases for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Symptoms & Phenotypes for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Drugs & Therapeutics for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Search Clinical Trials , NIH Clinical Center for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome

Genetic Tests for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Anatomical Context for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

MalaCards organs/tissues related to X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome:

42
Skin, Eye

Publications for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Variations for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Expression for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Search GEO for disease gene expression data for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome.

Pathways for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

GO Terms for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

Sources for X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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