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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: Craniofacial Abnormalities (D019465)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Scimitar Syndrome (D012587)
..Starting node ..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
Child Nodes:
Sister Nodes:
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10049
Name:	Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Definition:
Alternative IDs:
ParentIDs:	MESH:D006330\|MESH:D012587\|MESH:D019465
TreeNumbers:	C05.660.207/C564262 \|C08.381.844/C564262 \|C08.695.815/C564262 \|C14.240.400/C564262 \|C14.240.850.968/C564262 \|C14.280.400/C564262 \|C14.907.780/C564262 \|C16.131.240.400/C564262 \|C16.131.240.850.937/C564262 \|C16.131.621.207/C564262 \|C16.131.740.815/C564262
Synonyms:	Anomalous Pulmonary Venous Return, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Musculoskeletal disease\|Respiratory tract disease
Reference:	MedGen: C564262 MeSH: C564262 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants