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 58

Classifications:

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


External Ids:

Orphanet 58 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 eye, bone and skin.

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:

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Eye, Bone, Skin

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
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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