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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: Bone Diseases, Developmental (D001848)
Parent Node: Craniofacial Dysostosis (D003394)
Parent Node: Gingival Hemorrhage (D005884)
..Starting node ..Bazopoulou Kyrkanidou syndrome (C537664)
Child Nodes:
Sister Nodes:
..Bazopoulou Kyrkanidou syndrome (C537664)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1200
Name:	Bazopoulou Kyrkanidou syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D003394\|MESH:D005884
TreeNumbers:	C05.116.099.370.231/C537664 \|C05.116.099/C537664 \|C05.660.207.231/C537664 \|C07.465.625.446/C537664 \|C07.465.714.258.250/C537664 \|C16.131.621.207.231/C537664 \|C23.550.414.922.500/C537664
Synonyms:
Slim Mappings:	Congenital abnormality\|Mouth disease\|Musculoskeletal disease\|Pathology (process)
Reference:	MedGen: C537664 MeSH: C537664 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants