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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: Scoliosis (D012600)
..Starting node ..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
Child Nodes:
Sister Nodes:
..Acrodysplasia scoliosis (C538180)
..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..Coffin syndrome 1 (C536435)
..Daish Hardman Lamont syndrome (C535770)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Gaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..Iida Kannari syndrome (C536284)
..Kyphoscoliosis 1 (C565711)
..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..Omphalocele exstrophy imperforate anus (C537748)
..Parastremmatic dwarfism (C537172)
..Pilotto syndrome (C537400)
..Prata Libéral Gonçalves syndrome (C538277)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..Rigid spine syndrome (C535683)
..Scoliosis, Arachnodactyly, And Blindness (C567309)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..Shprintzen omphalocele syndrome (C537329)
..Spondylocarpotarsal synostosis (C535780)
..Tsukahara Syndrome (C566376)
..Waaler Aarskog syndrome (C536461)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10073

Name:

SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3

Definition:

Alternative IDs:

ParentIDs:

MESH:D012600

TreeNumbers:

C05.116.900.800.875/608765

Synonyms:

IS3

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: 608765
MeSH: 608765
OMIM: 608765;

Genes:

Phenotypes

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_017780.3(CHD7):c.1666-3238A>G	55636	CHD7	Uncertain significance	4738824	RCV000002108;	N	MedGen:C1837461,OMIM:608765	8	61690321	61690321	NM_017780.3:c.1666-3238A>G		NC_000008.10:g.61690321A>G	OMIM Allelic Variant:608892.0009	C1837461 608765 Scoliosis, idiopathic 3