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Opitz gbbb syndrome
Opitz gbbb syndrome
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Include the contents of this disease's 2 subtypes
in the table below
Show the subtypes
Opitz gbbb syndrome, type i
Opitz gbbb syndrome, type ii
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Autosomal dominant opitz g/bbb syndrome
MONDO:0007779
SPECC1L
Causal
:
1897571
21703590
25412741
26111080
26787558
29168297
30472488
31837199
31953237
32386258
32807111
32954677
33527670
33587123
35026468
35305867
35982160
8849002
CTD
,
Open Targets
—
Opitz GBBB syndrome
MONDO_0010222
MID1
Unknown
12545276
15558842
17221865
11030761
9718340
9354791
Open Targets
Ubiquitin mediated proteolysis
Interferon gamma signaling
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
1
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Opitz gbbb syndrome.
5
View disease cluster →
X-linked opitz syndrome
1 shared gene
MID1
Related via 1 shared gene including MID1.
Opitz gbbb syndrome, type i
1 shared gene
MID1
Related via 1 shared gene including MID1.
Facial clefting, oblique, 1
1 shared gene
SPECC1L
Related via 1 shared gene including SPECC1L.
Opitz gbbb syndrome, type ii
1 shared gene
SPECC1L
Related via 1 shared gene including SPECC1L.
Teebi syndrome
1 shared gene
SPECC1L
Related via 1 shared gene including SPECC1L.
1
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