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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:tooth agenesis
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Accession:DOID:0050591 term browser browse the term
Definition:A tooth disease characterized by failure to develop one or more missing teeth. (DO)
Synonyms:exact_synonym: familial tooth agenesis;   hypodontia;   oligodontia;   reduced number of teeth;   selective tooth agenesis
 alt_id: OMIM:147330
 xref: EFO:0005410;   NCI:C172328;   OMIM:PS106600;   ORDO:2227;   ORDO:99798

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show annotations for term's descendants           Sort by:
tooth agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aak1 AP2 associated kinase 1 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chrNW_004955424:15,480,783...15,640,471
Ensembl chrNW_004955424:15,483,465...15,627,664 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 More... NCBI chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) RGD PMID:23079991 RGD:13446405 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis		 RGD
ClinVar		 PMID:26166641 RGD:13442494 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Hypodontia ClinVar PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955475:9,177,911...9,592,150
Ensembl chrNW_004955475:9,178,234...9,588,440 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chrNW_004955492:3,709,819...3,777,506
Ensembl chrNW_004955492:3,711,549...3,777,528 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532 NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:24914010 NCBI chrNW_004955514:4,923,552...4,927,471
Ensembl chrNW_004955514:4,923,552...4,927,471 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:12605438 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 More... NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:25741868 NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555 		JBrowse link
G Rfx2 regulatory factor X2 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chrNW_004955495:3,414,737...3,485,393
Ensembl chrNW_004955495:3,452,624...3,484,446 		JBrowse link
G Seh1l SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chrNW_004955402:679,109...698,624
Ensembl chrNW_004955402:681,436...698,624 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chrNW_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chrNW_004955424:20,329,009...20,443,652
Ensembl chrNW_004955424:20,327,754...20,445,980 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818 		JBrowse link
Selective Tooth Agenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 ClinVar PMID:19555857 PMID:20002458 PMID:21737554 PMID:25741868 PMID:26387786 More... NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 OMIM
ClinVar		 PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:12807959 More... NCBI chrNW_004955514:4,923,552...4,927,471
Ensembl chrNW_004955514:4,923,552...4,927,471 		JBrowse link
Selective Tooth Agenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 10 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chrNW_004955407:41,513,538...41,566,931
Ensembl chrNW_004955407:41,513,829...41,656,564 		JBrowse link
Selective Tooth Agenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 PMID:30526585 NCBI chrNW_004955475:9,177,911...9,592,150
Ensembl chrNW_004955475:9,178,234...9,588,440 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 NCBI chrNW_004955514:4,332,624...4,430,844
Ensembl chrNW_004955514:4,333,066...4,430,902 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 More... NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818 		JBrowse link
Selective Tooth Agenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 OMIM
ClinVar		 PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More... NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 ClinVar PMID:11941488 NCBI chrNW_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307 		JBrowse link
Selective Tooth Agenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: LATERAL INCISORS, ABSENCE OF | ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 OMIM
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818 		JBrowse link
Selective Tooth Agenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7 OMIM
ClinVar		 PMID:17332414 PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 More... NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650 		JBrowse link
Selective Tooth Agenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 8 OMIM
ClinVar		 PMID:25741868 PMID:27321946 PMID:28492532 NCBI chrNW_004955500:7,782,782...7,800,281
Ensembl chrNW_004955500:7,782,782...7,788,309 		JBrowse link
Selective Tooth Agenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 9 OMIM
ClinVar		 PMID:23401279 PMID:25741868 PMID:26416033 NCBI chrNW_004955406:11,245,960...11,343,677
Ensembl chrNW_004955406:11,245,960...11,343,677 		JBrowse link
Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 OMIM
ClinVar		 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 More... NCBI chrNW_004955475:9,177,911...9,592,150
Ensembl chrNW_004955475:9,178,234...9,588,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Stomatognathic Diseases 1241
      Stomatognathic System Abnormalities 554
        Tooth Abnormalities 268
          tooth agenesis 22
            Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
            Kallmann Syndrome 2 with Selective Tooth Agenesis 0
            Selective Tooth Agenesis 1 2
            Selective Tooth Agenesis 10 1
            Selective Tooth Agenesis 2 3
            Selective Tooth Agenesis 3 2
            Selective Tooth Agenesis 4 1
            Selective Tooth Agenesis 5 0
            Selective Tooth Agenesis 7 1
            Selective Tooth Agenesis 8 1
            Selective Tooth Agenesis 9 1
            Selective Tooth Agenesis with Orofacial Cleft 0
            Selective Tooth Agenesis, X-Linked, 1 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            mouth disease 922
              tooth disease 405
                Tooth Abnormalities 268
                  tooth agenesis 22
                    Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
                    Kallmann Syndrome 2 with Selective Tooth Agenesis 0
                    Selective Tooth Agenesis 1 2
                    Selective Tooth Agenesis 10 1
                    Selective Tooth Agenesis 2 3
                    Selective Tooth Agenesis 3 2
                    Selective Tooth Agenesis 4 1
                    Selective Tooth Agenesis 5 0
                    Selective Tooth Agenesis 7 1
                    Selective Tooth Agenesis 8 1
                    Selective Tooth Agenesis 9 1
                    Selective Tooth Agenesis with Orofacial Cleft 0
                    Selective Tooth Agenesis, X-Linked, 1 1
paths to the root