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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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Disease Browser
Parent Node: Diseases (C)
Parent Node: Jarcho-Levin syndrome (C537565)
Parent Node: Spondylocostal dysostosis, autosomal recessive (C535781)
..Starting node ..SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
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:

10570

Name:

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

ParentIDs:

MESH:C535781|MESH:C537565

TreeNumbers:

C05.116.099.370/C535781/277300 |C14.240.400/C537565/277300 |C14.280.400/C537565/277300 |C16.131.077/C537565/277300 |C16.131.240.400/C537565/277300 |C23.300.707.500/C537565/277300

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition)

Reference:

MedGen: 277300
MeSH: 277300
OMIM: 277300;

Genes: DLL3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003310	Abnormality of the odontoid process
3	HP:0003305	Block vertebrae
4	HP:0001522	Death in infancy
5	HP:0003521	Disproportionate short-trunk short stature
6	HP:0002937	Hemivertebrae
7	HP:0002205	Recurrent respiratory infections
8	HP:0000902	Rib fusion
9	HP:0003510	Severe short stature
10	HP:0000470	Short neck

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_016941.3(DLL3):c.425T>A (p.Leu142Gln)	10683	DLL3	Benign	55741253	RCV000034279;	N	MedGen:CN032975,OMIM:277300	19	39993470	39993470	NM_016941.3:c.425T>A	NP_058637.1:p.Leu142Gln	NC_000019.9:g.39993470T>A	-	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.515T>G (p.Phe172Cys)	10683	DLL3	Benign	8107127	RCV000034280;	N	MedGen:CN032975,OMIM:277300	19	39993560	39993560	NM_016941.3:c.515T>G	NP_058637.1:p.Phe172Cys	NC_000019.9:g.39993560T>G	-	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.599_603dupGCGGT (p.Pro202Alafs)	10683	DLL3	Pathogenic	786200899	RCV000007230;	N	MedGen:CN032975,OMIM:277300	19	39993644	39993648	NM_016941.3:c.599_603dupGCGGT	NP_058637.1:p.Pro202Alafs	NC_000019.9:g.39993644_39993648dupGCGGT	OMIM Allelic Variant:602768.0001	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.618delC (p.Cys207Alafs)	10683	DLL3	Pathogenic	786200902	RCV000007234;	N	MedGen:CN032975,OMIM:277300	19	39993663	39993663	NM_016941.3:c.618delC	NP_058637.1:p.Cys207Alafs	NC_000019.9:g.39993663delC	OMIM Allelic Variant:602768.0005	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.653T>C (p.Leu218Pro)	10683	DLL3	Benign	1110627	RCV000034281;	N	MedGen:CN032975,OMIM:277300	19	39994711	39994711	NM_016941.3:c.653T>C	NP_058637.1:p.Leu218Pro	NC_000019.9:g.39994711T>C	-	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.712C>T (p.Arg238Ter)	10683	DLL3	Pathogenic	104894675	RCV000007235;	N	MedGen:CN032975,OMIM:277300	19	39994770	39994770	NM_016941.3:c.712C>T	NP_058637.1:p.Arg238Ter	NC_000019.9:g.39994770C>T	OMIM Allelic Variant:602768.0006	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.945_946delAT (p.Ala317Argfs)	10683	DLL3	Pathogenic	786200900	RCV000007231;	N	MedGen:CN032975,OMIM:277300	19	39995943	39995944	NM_016941.3:c.945_946delAT	NP_058637.1:p.Ala317Argfs	NC_000019.9:g.39995943_39995944delAT	OMIM Allelic Variant:602768.0002	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.1154G>A (p.Gly385Asp)	10683	DLL3	Pathogenic	104894674	RCV000007232;	N	MedGen:CN032975,OMIM:277300	19	39997739	39997739	NM_016941.3:c.1154G>A	NP_058637.1:p.Gly385Asp	NC_000019.9:g.39997739G>A	OMIM Allelic Variant:602768.0003	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.1291_1307dup17 (p.Pro437Thrfs)	10683	DLL3	Pathogenic	786200901	RCV000007233;	N	MedGen:CN032975,OMIM:277300	19	39997876	39997892	NM_016941.3:c.1291_1307dup17	NP_058637.1:p.Pro437Thrfs	NC_000019.9:g.39997876_39997892dup17	OMIM Allelic Variant:602768.0004	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.1440delG (p.Pro481Argfs)	10683	DLL3	Pathogenic	786200903	RCV000007236;	N	MedGen:CN032975,OMIM:277300	19	39998025	39998025	NM_016941.3:c.1440delG	NP_058637.1:p.Pro481Argfs	NC_000019.9:g.39998025delG	OMIM Allelic Variant:602768.0007	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.1511G>A (p.Gly504Asp)	10683	DLL3	Pathogenic	104894676	RCV000007237;	N	MedGen:CN032975,OMIM:277300	19	39998096	39998096	NM_016941.3:c.1511G>A	NP_058637.1:p.Gly504Asp	NC_000019.9:g.39998096G>A	OMIM Allelic Variant:602768.0008	CN032975 277300 Spondylocostal dysostosis 1
NM_016941.3(DLL3):c.1547G>T (p.Arg516Leu)	10683	DLL3	Benign	14635	RCV000034278;	N	MedGen:CN032975,OMIM:277300	19	39998132	39998132	NM_016941.3:c.1547G>T	NP_058637.1:p.Arg516Leu	NC_000019.9:g.39998132G>T	-	CN032975 277300 Spondylocostal dysostosis 1