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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Usher syndrome type 1
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Accession:DOID:0110826 term browser browse the term
Definition:Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Subtypes include types 1B - 1I.
Synonyms:exact_synonym: US1;   USH1;   Usher Syndrome, Type I
 primary_id: RDO:9000055
 xref: NCI:C126327;   ORDO:231169
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298, PMID:24033266, PMID:28492532 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18273900, PMID:19683999, PMID:20613545, PMID:21228398, PMID:21569298, PMID:21738395, PMID:24033266, PMID:25468891, PMID:25741868, PMID:25788563, PMID:26467025, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:18505454, PMID:23023331 NCBI chr 8:59,123,078...59,139,946
Ensembl chr 8:59,123,079...59,139,946
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chr 5:169,293,356...169,331,338
Ensembl chr 5:169,293,904...169,331,163
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
JBrowse link
G Myo7a myosin VIIA ISO
ISS
DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
OMIM:276900
ClinVar
MouseDO
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10364543, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12080385, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27440999, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27766948, PMID:27957503, PMID:28008688, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088, PMID:15592175 RGD:8694152 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chr10:103,874,383...103,883,953
Ensembl chr10:103,874,383...103,883,953
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:20672374, PMID:21569298, PMID:22135276, PMID:22183965, PMID:22815625, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24831256, PMID:25262649, PMID:25307757, PMID:25468891, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27058588, PMID:27208204, PMID:27460420, PMID:27766948, PMID:27861356, PMID:28492532, PMID:30718709 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO
ISS
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
OMIM:276900
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)
ClinVar
MouseDO
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24498627, PMID:25356976, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709, PMID:21487335, PMID:17407589, PMID:23251578 RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar PMID:11941484, PMID:12588794, PMID:21569298, PMID:25741868 NCBI chr10:103,866,566...103,873,416
Ensembl chr10:103,869,377...103,873,246
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:21569298, PMID:24033266, PMID:26667666, PMID:28041643, PMID:28492532 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA treatment ISO
IAGP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome, type 1B
DNA:mutations: :multiple
DNA:nonsense mutation
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:7951250, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:9843659, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:11391666, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:8900236, PMID:12112664, PMID:23991031, PMID:23991031, PMID:15965244 RGD:8694135, RGD:8694137, RGD:8694151, RGD:8694151, RGD:1581470 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome, type 1C
ClinVar Annotator: match by OMIM:276904
CTD Direct Evidence: marker/mechanism
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
OMIM
ClinVar
CTD
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20146813, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:22581970, PMID:23251578, PMID:23380860, PMID:23967202, PMID:24033266, PMID:24154662, PMID:24416283, PMID:24498627, PMID:24618850, PMID:25262649, PMID:25333064, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:25788563, PMID:26445815, PMID:26467025, PMID:26944241, PMID:26969326, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30245029, PMID:30718709, PMID:10973247 RGD:1600453 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by OMIM:601067
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2289998, PMID:2706105, PMID:11090341, PMID:11138009, PMID:11857743, PMID:12075507, PMID:12522556, PMID:15353998, PMID:15537665, PMID:15660226, PMID:16679490, PMID:17407589, PMID:17850630, PMID:18273900, PMID:18323324, PMID:18348277, PMID:18429043, PMID:19375528, PMID:19683999, PMID:20146813, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21228398, PMID:21436283, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22443853, PMID:22607986, PMID:22899989, PMID:22995991, PMID:23451239, PMID:23591405, PMID:23757202, PMID:23804846, PMID:23967202, PMID:24033266, PMID:24164807, PMID:24416283, PMID:24498627, PMID:24618850, PMID:24767429, PMID:24875298, PMID:25262649, PMID:25279224, PMID:25333064, PMID:25356970, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25587757, PMID:25741868, PMID:25788563, PMID:25963016, PMID:25991456, PMID:26264712, PMID:26467025, PMID:26633542, PMID:26763877, PMID:26969326, PMID:27068579, PMID:27460420, PMID:27583405, PMID:27743452, PMID:27792758, PMID:27884173, PMID:28492532, PMID:28912962, PMID:30029624, PMID:30123251, PMID:30245029, PMID:30311386, PMID:30367262, PMID:30718709, PMID:30774966, PMID:11138008 RGD:8662279 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar PMID:11090341, PMID:11138009, PMID:12075507, PMID:15537665, PMID:15660226, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:25991456, PMID:26467025, PMID:28492532 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by OMIM:601067
OMIM
ClinVar
PMID:12711741, PMID:14570705, PMID:15028842, PMID:16679490, PMID:18484607, PMID:18719945, PMID:19375528, PMID:21436283, PMID:21569298, PMID:22815625, PMID:24033266, PMID:24105371, PMID:24618850, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:26872967, PMID:27460420, PMID:28492532 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar Annotator: match by term: Usher syndrome, type 1F
ClinVar Annotator: match by OMIM:602083
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11398101, PMID:11487575, PMID:12711741, PMID:14570705, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18484607, PMID:18719945, PMID:19375528, PMID:19683999, PMID:19881469, PMID:20301515, PMID:21436283, PMID:21569298, PMID:22135276, PMID:22815625, PMID:22952768, PMID:22981120, PMID:23451239, PMID:23462753, PMID:23591405, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24705292, PMID:24831256, PMID:24853665, PMID:24940003, PMID:25262649, PMID:25307757, PMID:25404053, PMID:25425308, PMID:25525159, PMID:25575603, PMID:25741868, PMID:25999675, PMID:26166082, PMID:26346818, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27058588, PMID:27068579, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27610647, PMID:27743452, PMID:27766948, PMID:28000701, PMID:28281779, PMID:28492532, PMID:28900111, PMID:28968992, PMID:30311386, PMID:30459346 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:15660226, PMID:17896313, PMID:22135276, PMID:24033266, PMID:25741868, PMID:28224992, PMID:28492532 NCBI chr10:103,874,383...103,883,953
Ensembl chr10:103,874,383...103,883,953
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome, type 1G
ClinVar Annotator: match by term: USH1G-Related Disorders
OMIM
ClinVar
PMID:11941484, PMID:12588794, PMID:15660226, PMID:17896313, PMID:21044053, PMID:22135276, PMID:23591405, PMID:24033266, PMID:25255398, PMID:25741868, PMID:26467025, PMID:26878454, PMID:27068579, PMID:27353947, PMID:28224992, PMID:28492532 NCBI chr10:103,866,566...103,873,416
Ensembl chr10:103,869,377...103,873,246
JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614869
OMIM
CTD
ClinVar
PMID:18505454, PMID:23023331 NCBI chr 8:59,123,078...59,139,946
Ensembl chr 8:59,123,079...59,139,946
JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE 1M OMIM
ClinVar
PMID:29572253 NCBI chr 5:169,293,356...169,331,338
Ensembl chr 5:169,293,904...169,331,163
JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Usher syndrome 50
        Usher syndrome type 1 12
          Usher Syndrome Type 1B 3
          Usher Syndrome Type 1M 1
          Usher syndrome type 1C 1
          Usher syndrome type 1D + 4
          Usher syndrome type 1E 0
          Usher syndrome type 1F + 2
          Usher syndrome type 1G 3
          Usher syndrome type 1H 0
          Usher syndrome type 1J 1
          Usher syndrome type 1K 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Deafness 276
                    Deaf-Blind Disorders 58
                      Usher syndrome 50
                        Usher syndrome type 1 12
                          Usher Syndrome Type 1B 3
                          Usher Syndrome Type 1M 1
                          Usher syndrome type 1C 1
                          Usher syndrome type 1D + 4
                          Usher syndrome type 1E 0
                          Usher syndrome type 1F + 2
                          Usher syndrome type 1G 3
                          Usher syndrome type 1H 0
                          Usher syndrome type 1J 1
                          Usher syndrome type 1K 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.