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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:polygenic disease
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Accession:DOID:0080577 term browser browse the term
Definition:A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:158901
OMIM
ClinVar
CTD
PMID:23143600, PMID:24075187, PMID:25256356, PMID:25370034, PMID:25741868, PMID:26467025, PMID:26842768, PMID:28067909, PMID:28067911, PMID:28492532, PMID:29980640, PMID:30327220 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711, PMID:1642278, PMID:1903591, PMID:1970634, PMID:5516239, PMID:9242509, PMID:11284711, PMID:12753405, PMID:13680365, PMID:15146472, PMID:18463683, PMID:18590551, PMID:18821858, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19865097, PMID:20861488, PMID:21906913, PMID:22734612, PMID:23504663, PMID:24033266, PMID:24123366, PMID:25216246, PMID:25741868, PMID:26167114, PMID:26818737, PMID:27775880, PMID:27887888, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
retinitis pigmentosa 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 18
ClinVar Annotator: match by OMIM:608133
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1684223, PMID:7880786, PMID:8019570, PMID:8020945, PMID:8111389, PMID:8202715, PMID:9443872, PMID:11297544, PMID:12925772, PMID:23847139, PMID:25447119, PMID:25741868, PMID:28076437, PMID:28492532, PMID:28559085, PMID:29555955 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar
PMID:7904211, PMID:8202715, PMID:16799052, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name 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: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: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 ID/F term browser
Symbol Object Name 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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          polygenic disease 14
            digenic disease + 14
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.