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RGD uses the Human Disease Ontology (DO, 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 1B
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Accession:DOID:9003365 term browser browse the term
Synonyms:exact_synonym: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS;   USH1A;   USH1B;   USHER SYNDROME, TYPE I, FRENCH VARIETY;   Usher Syndrome Type IA;   Usher Syndrome Type IB
 primary_id: MESH:C536485;   MESH:C564755
 alt_id: OMIM:276900;   RDO:0002087;   RDO:0013610
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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
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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Usher syndrome 50
        Usher syndrome type 1 12
          Usher Syndrome Type 1B 3
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          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
paths to the root