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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: Usher Syndromes (D052245)
..Starting node ..Usher syndrome, type 2B (C536491)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11450
Name:	Usher syndrome, type 2B
Definition:
Alternative IDs:
ParentIDs:	MESH:D052245
TreeNumbers:	C09.218.458.341.186.500.500/C536491 \|C09.218.458.341.887.886/C536491 \|C10.597.751.418.341.186.500.500/C536491 \|C10.597.751.418.341.887.886/C536491 \|C10.597.751.941.162.625.500/C536491 \|C11.768.585.658.500.813/C536491 \|C11.966.075.375.500/C536491 \|C16.131.077.29
Synonyms:
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Eye disease\|Genetic disease (inborn)\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536491 MeSH: C536491 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants