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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: Abnormalities, Multiple (D000015)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hernia, Diaphragmatic (D006548)
..Starting node ..Jarcho-Levin syndrome (C537565)
Child Nodes:
........SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Sister Nodes:
..Diaphragm, Complete Agenesis Of (C564189)
..Diaphragmatic Hernia 1 (C564188)
..Diaphragmatic Hernia 2 (C565629)
..Diaphragmatic Hernia 3 (C565710)
..Fryns syndrome (C538070)
..Hernia, Diaphragmatic, Traumatic (D006549)
..Hernia, Hiatal (D006551) 3
..Hernias, Diaphragmatic, Congenital (D065630) 7
..Jarcho-Levin syndrome (C537565) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5943
Name:	Jarcho-Levin syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D006548
TreeNumbers:	C14.240.400/C537565 \|C14.280.400/C537565 \|C16.131.077/C537565 \|C16.131.240.400/C537565 \|C23.300.707.500/C537565
Synonyms:	Costovertebral dysplasia \|Spondylocostal dysostosis \|Spondylocostal Dysostosis 1, Autosomal Recessive \|Spondylocostal dysplasia, recessive form \|Spondylothoracic Dysostosis \|Spondylothoracic Dysplasia
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Pathology (anatomical condition)
Reference:	MedGen: C537565 MeSH: C537565 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants