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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: Bardet-Biedl Syndrome (D020788)
..Starting node ..Bardet-Biedl syndrome 4 (C537912)
Child Nodes:
Sister Nodes:
..Bardet-Biedl syndrome 1 (C537909)
..Bardet-Biedl Syndrome 10 (C565919)
..Bardet-Biedl Syndrome 11 (C565920)
..Bardet-Biedl Syndrome 12 (C565921)
..Bardet-Biedl Syndrome 13 (C567140)
..Bardet-Biedl Syndrome 14 (C567141)
..Bardet-Biedl syndrome 2 (C537910)
..Bardet-Biedl syndrome 3 (C537911)
..Bardet-Biedl syndrome 4 (C537912)
..Bardet-Biedl Syndrome 6 (C565738)
..Bardet-Biedl Syndrome 7 (C565916)
..Bardet-Biedl Syndrome 8 (C565917)
..Bardet-Biedl Syndrome 9 (C565918)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1161
Name:	Bardet-Biedl syndrome 4
Definition:
Alternative IDs:
ParentIDs:	MESH:D020788
TreeNumbers:	C10.228.140.617.200/C537912 \|C16.131.077.112/C537912
Synonyms:
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: C537912 MeSH: C537912 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants