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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Diseases (C)
Parent Node: Spondylocostal dysostosis, autosomal recessive (C535781)
..Starting node ..SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Child Nodes:
Sister Nodes:
..SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
..SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
..SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
..SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10571

Name:

SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

ParentIDs:

MESH:C535781

TreeNumbers:

C05.116.099.370/C535781/608681

Synonyms:

SCDO2

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: 608681
MeSH: 608681
OMIM: 608681;

Genes: MESP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003521	Disproportionate short-trunk short stature
3	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	HP:0040284
4	HP:0002205	Recurrent respiratory infections
5	HP:0000902	Rib fusion
6	HP:0000470	Short neck
7	HP:0003422	Vertebral segmentation defect

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001039958.1(MESP2):c.197C>G (p.Ala66Gly)	145873	MESP2	Benign	71647809	RCV000032154;	N	MedGen:C1837549,OMIM:608681	15	90319785	90319785	NM_001039958.1:c.197C>G	NP_001035047.1:p.Ala66Gly	NC_000015.9:g.90319785C>G	-	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.241G>T (p.Gly81Ter)	145873	MESP2	Pathogenic	118204034	RCV000032155;	N	MedGen:C1837549,OMIM:608681	15	90319829	90319829	NM_001039958.1:c.241G>T	NP_001035047.1:p.Gly81Ter	NC_000015.9:g.90319829G>T	-	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.271A>G (p.Lys91Glu)	145873	MESP2	Pathogenic	113994156	RCV000032156;	N	MedGen:C1837549,OMIM:608681	15	90319859	90319859	NM_001039958.1:c.271A>G	NP_001035047.1:p.Lys91Glu	NC_000015.9:g.90319859A>G	-	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.307G>T (p.Glu103Ter)	145873	MESP2	Pathogenic	71647808	RCV000005493;	N	MedGen:C1837549,OMIM:608681	15	90319895	90319895	NM_001039958.1:c.307G>T	NP_001035047.1:p.Glu103Ter	NC_000015.9:g.90319895G>T	OMIM Allelic Variant:605195.0002	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.373C>G (p.Leu125Val)	145873	MESP2	Pathogenic	71647806	RCV000005494;	N	MedGen:C1837549,OMIM:608681	15	90319961	90319961	NM_001039958.1:c.373C>G	NP_001035047.1:p.Leu125Val	NC_000015.9:g.90319961C>G	OMIM Allelic Variant:605195.0003	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.385A>T (p.Ile129Phe)	145873	MESP2	Pathogenic	113994157	RCV000032157;	N	MedGen:C1837549,OMIM:608681	15	90319973	90319973	NM_001039958.1:c.385A>T	NP_001035047.1:p.Ile129Phe	NC_000015.9:g.90319973A>T	-	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.500_503dupACCG (p.Gly169Profs)	145873	MESP2	Pathogenic	113994158	RCV000005492;	N	MedGen:C1837549,OMIM:608681	15	90320088	90320091	NM_001039958.1:c.500_503dupACCG	NP_001035047.1:p.Gly169Profs	NC_000015.9:g.90320088_90320091dupACCG	OMIM Allelic Variant:605195.0001	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA(2_4) (p.Gly205_Arg206insGlnGlyGlnGly)	145873	MESP2	Benign	397507446	RCV000032158;	N	MedGen:C1837549,OMIM:608681	15	90320123	90320134	NM_001039958.1:c.535GGGCAGGGGCAA(2_4)	NP_001035047.1:p.Gly205_Arg206insGlnGlyGlnGly		-	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.670T>C (p.Ser224Pro)	145873	MESP2	Benign	118204033	RCV000032159;	N	MedGen:C1837549,OMIM:608681	15	90320258	90320258	NM_001039958.1:c.670T>C	NP_001035047.1:p.Ser224Pro	NC_000015.9:g.90320258T>C	-	C1837549 608681 Spondylocostal dysostosis 2
NM_001039958.1(MESP2):c.700G>T (p.Glu234Ter)	145873	MESP2	Pathogenic	118204035	RCV000005495;	N	MedGen:C1837549,OMIM:608681	15	90320288	90320288	NM_001039958.1:c.700G>T	NP_001035047.1:p.Glu234Ter	NC_000015.9:g.90320288G>T	OMIM Allelic Variant:605195.0004	C1837549 608681 Spondylocostal dysostosis 2