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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: Anophthalmos (D000853)
Parent Node: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Microstomia (D008865)
..Starting node ..Samson Viljoen syndrome (C537231)
Child Nodes:
Sister Nodes:
..Agnathia-microstomia-synotia (C538059)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Samson Viljoen syndrome (C537231)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9961
Name:	Samson Viljoen syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D000853\|MESH:D002971\|MESH:D002972\|MESH:D008865
TreeNumbers:	C05.500.460.185/C537231 \|C05.660.207.540.460.185/C537231 \|C07.320.440.185/C537231 \|C07.465.409.225/C537231 \|C07.465.525.164/C537231 \|C07.465.525.185/C537231 \|C07.465.525.520/C537231 \|C07.650.500.460.185/C537231 \|C07.650.525.164/C537231 \|C07.650.525.185/C537231 \|C0
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: C537231 MeSH: C537231 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants