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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: Facies (D019066)
Parent Node: Lymphedema (D008209)
Parent Node: Microcephaly (D008831)
Parent Node: Retinal Dysplasia (D015792)
..Starting node ..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
Child Nodes:
Sister Nodes:
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..Reese Retinal Dysplasia (C564854)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6603
Name:	Lymphedema, microcephaly and chorioretinopathy syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D008209\|MESH:D008831\|MESH:D015792\|MESH:D019066
TreeNumbers:	C05.660.207.620/C537711 \|C10.500.507.400.500/C537711 \|C11.250.666/C537711 \|C11.270.660/C537711 \|C11.768.660/C537711 \|C15.604.496/C537711 \|C16.131.384.784/C537711 \|C16.131.621.207.620/C537711 \|C16.131.666.507.400.500/C537711 \|C16.320.290.660/C537711 \|C23.550.291.81
Synonyms:	Chorioretinal dysplasia-microcephaly-mental retardation syndrome \|Lymphedema and Retinal Folds with Microcephaly and Microphthalmos \|Lymphedema, Microcephaly, Chorioretinopathy Syndrome \|Microcephaly lymphedema chorioretinal dysplasia \|Microcephaly, Lymphede
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Lymphatic disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)
Reference:	MedGen: C537711 MeSH: C537711 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants