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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


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 chr 4:119,300,128...119,451,834
Ensembl chr 4:119,295,257...119,450,969 		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 chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		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 chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
DNA:SNP:cds:c.455T>C(p.V152A)(human)
ClinVar Annotator: match by term: Tooth agenesis		 ClinVar
RGD		 PMID:26166641 PMID:23079991 RGD:13442494, RGD:13446405 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypodontia ClinVar PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		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 chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Msx1 msh homeobox 1 ISS
ISO		 OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Oligodontia		 MouseDO
ClinVar		 PMID:24914010 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Pax9 paired box 9 ISS
ISO		 OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
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		 MouseDO
ClinVar		 PMID:12605438 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:25741868 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rfx2 regulatory factor X2 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 9:1,604,636...1,671,220
Ensembl chr 9:1,604,646...1,671,027 		JBrowse link
G Seh1l SEH1-like nucleoporin ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr18:61,346,986...61,369,987 JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857 		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 chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		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 chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		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 chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		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 chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		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 chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		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 chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 ClinVar PMID:11941488 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7		 OMIM
CTD
ClinVar		 PMID:17332414 PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 More... NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 8		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27321946 PMID:28492532 NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 9		 OMIM
CTD
ClinVar		 PMID:23401279 PMID:25741868 PMID:26416033 NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Stomatognathic Diseases 1341
      Stomatognathic System Abnormalities 574
        Tooth Abnormalities 282
          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 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            mouth disease 1012
              tooth disease 443
                Tooth Abnormalities 282
                  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