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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, 5 (OMIM:612239)
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:	10075
Name:	SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5
Definition:
Alternative IDs:
ParentIDs:	MESH:D012600
TreeNumbers:	C05.116.900.800.875/612239
Synonyms:	IS5
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: 612239 MeSH: 612239 OMIM: 612239; Genes:
Phenotypes
Disease Causing ClinVar Variants