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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Usher Syndromes (D052245)
..Starting node ..USHER SYNDROME, TYPE IID (OMIM:611383)
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:

11460

Name:

USHER SYNDROME, TYPE IID

Definition:

Alternative IDs:

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/611383 |C09.218.458.341.887.886/611383 |C10.597.751.418.341.186.500.500/611383 |C10.597.751.418.341.887.886/611383 |C10.597.751.941.162.625.500/611383 |C11.768.585.658.500.813/611383 |C11.966.075.375.500/611383 |C16.131.077.299.500/6

Synonyms:

USH2D

Slim Mappings:

Reference:

MedGen: 611383
MeSH: 611383
OMIM: 611383;

Genes: DFNB31;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000365	Hearing impairment
3	HP:0000510	Rod-cone dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_015404.3(WHRN):c.2027C>G (p.Pro676Arg)	25861	WHRN	Uncertain significance	139279977	RCV000185565; RCV000185564; RCV000216709;	N	MedGen:C1568249,OMIM:611383; MedGen:C1846839,OMIM:607084; MedGen:CN169374	9	117168844	117168844	NM_015404.3:c.2027C>G	NP_056219.3:p.Pro676Arg		-	C1846839 607084 Deafness, autosomal recessive 31; CN169374 not specified; C1568249 611383 Usher syndrome, type 2D
NM_015404.3(WHRN):c.1267C>T (p.Arg423Ter)	25861	WHRN	Pathogenic	397517255	RCV000038863;	N	MedGen:C1568249,OMIM:611383	9	117186763	117186763	NM_015404.3:c.1267C>T	NP_056219.3:p.Arg423Ter	NC_000009.11:g.117186763G>A	-	C1568249 611383 Usher syndrome, type 2D
NM_015404.3(WHRN):c.643delG (p.Val215Cysfs)	25861	WHRN	Pathogenic	397517258	RCV000038897;	N	MedGen:C1568249,OMIM:611383	9	117241027	117241027	NM_015404.3:c.643delG	NP_056219.3:p.Val215Cysfs	NC_000009.11:g.117241027delC	-	C1568249 611383 Usher syndrome, type 2D
NM_015404.3(WHRN):c.307C>T (p.Gln103Ter)	25861	WHRN	Pathogenic	137852840	RCV000002809;	N	MedGen:C1568249,OMIM:611383	9	117266775	117266775	NM_015404.3:c.307C>T	NP_056219.3:p.Gln103Ter	NC_000009.11:g.117266775G>A	OMIM Allelic Variant:607928.0002	C1568249 611383 Usher syndrome, type 2D