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: enlarged vestibular aqueduct
Accession: DOID:0050332
browse the term
Definition: A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)
Synonyms: exact_synonym: EVA; large vestibular aqueduct
primary_id: RDO:9003730
xref: GARD:8651
G
Atp6v1b1
ATPase H+ transporting V1 subunit B1
ISS
OMIM:600791
MouseDO
NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
G
Ceacam16
CEA cell adhesion molecule 16, tectorial membrane component
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 4
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345
NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
G
Foxi1
forkhead box I1
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23918157 PMID:23924083 PMID:24193250 PMID:24378235 PMID:24561201 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:30733538 PMID:32062759 PMID:32233732 More...
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar
PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 4
ClinVar
PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
G
Slc26a4
solute carrier family 26 member 4
ISO
DNA:missense mutations, insertions, snp:multiple (human) DNA:transition:intron:g.IVS7-2A>G (human) DNA:mutations:multiple (human) ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
OMIM ClinVar CTD RGD
PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:8964290 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11558900 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11905055 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16086271 PMID:16199547 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17576681 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18381613 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18665027 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19189692 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20146813 PMID:20301640 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20623167 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21416585 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22509691 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23755160 PMID:23770805 PMID:23804846 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24222258 PMID:24224479 PMID:24245694 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24853665 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:24989646 PMID:25149764 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25572613 PMID:25587757 PMID:25724631 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25761933 PMID:25788563 PMID:25830873 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886069 PMID:26886089 PMID:26894580 PMID:26900070 PMID:26969326 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27246798 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27541434 PMID:27573290 PMID:27610647 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28215547 PMID:28273078 PMID:28281779 PMID:28341401 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28901477 PMID:28941661 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29320412 PMID:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29907799 PMID:29986705 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30554688 PMID:30622556 PMID:30693673 PMID:30760291 PMID:30762455 PMID:30842343 PMID:30896630 PMID:31020658 PMID:31033086 PMID:31035178 PMID:31095577 PMID:31107121 PMID:31124793 PMID:31387071 PMID:31427586 PMID:31541171 PMID:31581539 PMID:31589614 PMID:31599023 PMID:31633822 PMID:31656273 PMID:31700827 PMID:31971949 PMID:32165640 PMID:32251972 PMID:32417962 PMID:32447495 PMID:32459320 PMID:32645618 PMID:32658404 PMID:32681043 PMID:32747562 PMID:33111345 PMID:33152970 PMID:33199029 PMID:33502066 PMID:33528103 PMID:33597575 PMID:33614372 PMID:33801843 PMID:34161886 PMID:34170635 PMID:34171171 PMID:34410491 PMID:34416374 PMID:34426522 PMID:34539567 PMID:34545167 PMID:34599368 PMID:34680964 PMID:34752165 PMID:34801268 PMID:35249537 PMID:35276235 PMID:35802133 PMID:35816303 PMID:36633841 PMID:36703223 PMID:19509082 PMID:21965328 PMID:18167283 PMID:11317356 More...
RGD:7411543 , RGD:7411556 , RGD:7411671 , RGD:7421508
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all