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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 on or more missing teeth. (DO)
Synonyms:exact_synonym: familial tooth agenesis;   hypodontia;   oligodontia;   reduced number of teeth;   selective tooth agenesis
 xref: NCI:C172328;   OMIM:PS106600;   ORDO:2227;   ORDO:99798
For additional species annotation, visit the Alliance of Genome Resources.



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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: Reduced number of teeth 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)
ClinVar Annotator: match by term: Tooth agenesis
DNA:SNP:cds:c.455T>C(p.V152A)(human)
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 ISS OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926 MouseDO 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 death domain ISO ClinVar Annotator: match by term: Reduced number of teeth 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: Tooth agenesis
ClinVar Annotator: match by term: Oligodontia
ClinVar PMID:22813217 PMID:23033978 PMID:26963285 NCBI chr 4:167,266,581...167,400,155
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 chr14:72,961,170...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: Oligodontia
ClinVar Annotator: match by term: Tooth agenesis
ClinVar Annotator: match by term: Selective tooth agenesis
MouseDO
ClinVar
PMID:25741868 PMID:29969831 NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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: Reduced number of teeth ClinVar
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Selective tooth agenesis
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: Reduced number of teeth 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 ISS
ISO
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Reduced number of teeth
ClinVar Annotator: match by term: Selective tooth agenesis
MouseDO
ClinVar
PMID:17847007 PMID:19559398 PMID:21484994 PMID:22581971 PMID:23401279 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 Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Selective tooth agenesis 1 OMIM
ClinVar
PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:15264286 More... NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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
ClinVar Annotator: match by OMIM:604625
OMIM
ClinVar
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 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 ClinVar Annotator: match by OMIM:150400
ClinVar Annotator: match by term: Tooth agenesis, selective, 4
ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA
OMIM
ClinVar
PMID:2897600 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 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 ClinVar Annotator: match by term: Tooth agenesis, selective, 7 OMIM
ClinVar
PMID:22813217 PMID:26387593 PMID:26963285 NCBI chr 4:167,266,581...167,400,155
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 ClinVar Annotator: match by term: Tooth agenesis, selective, 8 ClinVar
OMIM
PMID:25741868 PMID:27321946 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 ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 9
ClinVar Annotator: match by term: Tooth agenesis, selective, 9
ClinVar
OMIM
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
ClinVar Annotator: match by OMIM:313500
OMIM
ClinVar
PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 PMID:19278982 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 17435
    Stomatognathic Diseases 1036
      tooth disease 297
        Tooth Abnormalities 155
          tooth agenesis 17
            Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
            Kallmann Syndrome 2 with Selective Tooth Agenesis 0
            Selective Tooth Agenesis 1 1
            Selective Tooth Agenesis 2 0
            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 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          mouth disease 805
            tooth disease 297
              Tooth Abnormalities 155
                tooth agenesis 17
                  Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
                  Kallmann Syndrome 2 with Selective Tooth Agenesis 0
                  Selective Tooth Agenesis 1 1
                  Selective Tooth Agenesis 2 0
                  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