SGM1
MCID: SGM003
MIFTS: 7

Segmentation Syndrome 1 (SGM1)

Categories: Rare diseases

Aliases & Classifications for Segmentation Syndrome 1

MalaCards integrated aliases for Segmentation Syndrome 1:

Name: Segmentation Syndrome 1 20 70
Klippel-Feil Syndrome with Laryngeal Malformation 20
Sgm1 20

Classifications:



External Ids:

UMLS 70 C1835636

Summaries for Segmentation Syndrome 1

MalaCards based summary : Segmentation Syndrome 1, is also known as klippel-feil syndrome with laryngeal malformation. An important gene associated with Segmentation Syndrome 1 is GDF6 (Growth Differentiation Factor 6).

Related Diseases for Segmentation Syndrome 1

Symptoms & Phenotypes for Segmentation Syndrome 1

Drugs & Therapeutics for Segmentation Syndrome 1

Search Clinical Trials , NIH Clinical Center for Segmentation Syndrome 1

Genetic Tests for Segmentation Syndrome 1

Anatomical Context for Segmentation Syndrome 1

Publications for Segmentation Syndrome 1

Articles related to Segmentation Syndrome 1:

# Title Authors PMID Year
1
Caenimonas soli sp. nov., isolated from soil. 61
33174135 2021
2
Caenimonas terrae sp. nov., isolated from a soil sample in Korea, and emended description of the genus Caenimonas Ryu et al. 2008. 61
23124758 2012
3
Affinity purification of Ypt6 effectors and identification of TMF/ARA160 as a Rab6 interactor. 61
16473623 2005
4
TMF is a golgin that binds Rab6 and influences Golgi morphology. 61
15128430 2004
5
Synthesis of ganglioside GM1 containing a thioglycosidic bond to its labeled ceramide(s). A facile synthesis starting from natural gangliosides. 61
9403993 1997
6
Patterned expression in familial Klippel-Feil syndrome. 61
8761882 1996

Variations for Segmentation Syndrome 1

Expression for Segmentation Syndrome 1

Search GEO for disease gene expression data for Segmentation Syndrome 1.

Pathways for Segmentation Syndrome 1

GO Terms for Segmentation Syndrome 1

Sources for Segmentation Syndrome 1

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