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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: Heart Defects, Congenital (D006330)
Parent Node: Retrognathia (D063173)
Parent Node: Spina Bifida Cystica (D016137)
..Starting node ..Kasznica Carlson Coppedge syndrome (C537011)
Child Nodes:
Sister Nodes:
..Kasznica Carlson Coppedge syndrome (C537011)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6031
Name:	Kasznica Carlson Coppedge syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D016137\|MESH:D063173
TreeNumbers:	C05.500.460.827/C537011 \|C05.660.207.540.460.827/C537011 \|C07.320.440.827/C537011 \|C07.320.610.827/C537011 \|C07.650.500.460.827/C537011 \|C10.500.680.800.730/C537011 \|C14.240.400/C537011 \|C14.280.400/C537011 \|C16.131.077/C537011 \|C16.131.240.400/C537011 \|C16.131.62
Synonyms:	Ectrodactyly spina bifida cardiopathy
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Mouth disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C537011 MeSH: C537011 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants