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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: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Facies (D019066)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Intestinal Volvulus (D045822)
..Starting node ..McPherson Clemens syndrome (C538160)
Child Nodes:
Sister Nodes:
..Intestinal Malrotation, Familial (C562835)
..McPherson Clemens syndrome (C538160)
..Volvulus Of Midgut (C562456)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6854
Name:	McPherson Clemens syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002971\|MESH:D002972\|MESH:D006330\|MESH:D019066\|MESH:D045822
TreeNumbers:	C05.500.460.185/C538160 \|C05.660.207.540.460.185/C538160 \|C06.405.469.531.568/C538160 \|C07.320.440.185/C538160 \|C07.465.409.225/C538160 \|C07.465.525.164/C538160 \|C07.465.525.185/C538160 \|C07.650.500.460.185/C538160 \|C07.650.525.164/C538160 \|C07.650.525.185/C53816
Synonyms:	Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease \|Cleft Lip/Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Digestive system disease\|Mouth disease\|Musculoskeletal disease\|Pathology (anatomical condition)\|Pathology (process)
Reference:	MedGen: C538160 MeSH: C538160 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants