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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: Eye Abnormalities (D005124)
Parent Node: Macrostomia (D008265)
..Starting node ..Ablepharon macrostomia syndrome (C535557)
Child Nodes:
Sister Nodes:
..Ablepharon macrostomia syndrome (C535557)
..Barber Say syndrome (C537908)
..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	81
Name:	Ablepharon macrostomia syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D005124\|MESH:D008265
TreeNumbers:	C07.465.525.480/C535557 \|C07.650.525.480/C535557 \|C11.250/C535557 \|C16.131.077/C535557 \|C16.131.384/C535557 \|C16.131.850.525.480/C535557
Synonyms:	Ablepharon-Macrostomia Syndrome
Slim Mappings:	Congenital abnormality\|Eye disease\|Mouth disease
Reference:	MedGen: C535557 MeSH: C535557 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants