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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

Disease Browser
Parent Node: Diseases (C)
Parent Node: Spondylocostal dysostosis, autosomal recessive (C535781)
..Starting node ..SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
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:

10572

Name:

SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

ParentIDs:

MESH:C535781

TreeNumbers:

C05.116.099.370/C535781/609813

Synonyms:

SCDO3

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: 609813
MeSH: 609813
OMIM: 609813;

Genes: LFNG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002650	Scoliosis
3	HP:0001238	Slender finger
4	HP:0004598	Supernumerary vertebral ossification centers
5	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	Disease_hgmd
NM_001040167.1(LFNG):c.564C>A (p.Phe188Leu)	3955	LFNG	Pathogenic	104894024	RCV000007414;	N	MedGen:C1853296,OMIM:609813	7	2564935	2564935	NM_001040167.1:c.564C>A	NP_001035257.1:p.Phe188Leu	NC_000007.13:g.2564935C>A	OMIM Allelic Variant:602576.0001	C1853296 609813 Spondylocostal dysostosis 3