Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Craniofacial Abnormalities (D019465)
Parent Node: Dandy-Walker Syndrome (D003616)
Parent Node: Heart Septal Defects, Atrial (D006344)
..Starting node ..3C syndrome (C535313)
Child Nodes:
Sister Nodes:
..3C syndrome (C535313)
..Atrial Septal Defect 1 (C566239)
..Atrial septal defect 2 (C538263)
..Atrial Septal Defect 3 (C563540)
..Atrial Septal Defect 4 (C566963)
..Atrial Septal Defect 5 (C567561)
..Atrial Septal Defect 6 (C567764)
..Atrial Septal Defect Ostium Primum (C548006)
..Atrial Septal Defect Sinus Venosus (C548009)
..Atrial Septal Defect with Atrioventricular Conduction Defects (C566238) 1
..Atrial Septal Defect, Primum Type (C566240)
..Atrial Septal Defect, Secundum Type (C566241)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Ciuffo Syndrome (C566733)
..Dursun Syndrome (C567804)
..Foramen Ovale, Patent (D054092)
..Holt-Oram syndrome (C535326)
..Irons Bhan syndrome (C535539)
..Lutembacher Syndrome (D008185)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Oculootofacial Dysplasia (C563682)
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Tel Hashomer camptodactyly syndrome (C536953)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	15
Name:	3C syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D003616\|MESH:D006344\|MESH:D019465
TreeNumbers:	C05.660.207/C535313 \|C10.228.140.252.300/C535313 \|C10.228.140.602.288/C535313 \|C10.228.140.631.450.500/C535313 \|C10.500.205/C535313 \|C14.240.400.560.375/C535313 \|C14.280.400.560.375/C535313 \|C16.131.077/C535313 \|C16.131.240.400.560.375/C535313 \|C16.131.621.207/C5
Synonyms:	CCC dysplasia \|Craniocerebellocardiac dysplasia \|Dandy-Walker-like malformation with atrioventricular septal defect \|Ritscher Schinzel syndrome \|Ritscher-Schinzel Syndrome
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C535313 MeSH: C535313 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants