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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: Heterotaxy Syndrome (D059446)
..Starting node ..Heterotaxy, Visceral, 3, Autosomal (C565237)
Child Nodes:
Sister Nodes:
..Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome (C565249)
..Heterotaxy, Visceral, 3, Autosomal (C565237)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotaxy, Visceroatrial, Autosomal Recessive (C566864)
..Laterality Defects, Autosomal Dominant (C563391)
..Left-Right Axis Malformations (C566610)
..Polyasplenia (C566862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5157
Name:	Heterotaxy, Visceral, 3, Autosomal
Definition:
Alternative IDs:	OMIM:606325
ParentIDs:	MESH:D059446
TreeNumbers:	C14.240.400.592/C565237 \|C14.280.400.592/C565237 \|C15.604.744.146/C565237 \|C16.131.077.401/C565237 \|C16.131.240.400.592/C565237
Synonyms:	HTX3
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Lymphatic disease
Reference:	MedGen: C565237 MeSH: C565237 OMIM: 606325; Genes:
Phenotypes
Disease Causing ClinVar Variants