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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:anodontia
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Accession:DOID:13714 term browser browse the term
Definition:A tooth disease that is characterized by complete absence of permanent teeth. (DO)
Synonyms:exact_synonym: Developmental absence of tooth;   Familial Tooth Ageneses;   Familial Tooth Agenesis;   Hypodontia;   Tooth agenesis, selective, with or without orofacial cleft;   complete absence of teeth;   total anodontia of permanent and deciduous teeth
 narrow_synonym: HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT;   Non-syndromic oligodontia;   PARTIAL CONGENITAL ABSENCE OF TEETH;   TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT
 primary_id: MESH:D000848
 xref: GARD:5818;   ICD10CM:K00.0;   ICD9CM:520.0
For additional species annotation, visit the Alliance of Genome Resources.


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anodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chrNW_004936541:7,155,963...7,242,466 JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chrNW_004936787:307,290...309,963 JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chrNW_004936478:17,129,922...17,403,630 JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chrNW_004936475:7,354,273...7,358,328 JBrowse link
G LOC101956136 ectodysplasin-A ISO ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar PMID:11295832, PMID:12949972, PMID:19278982, PMID:19623212, PMID:19921643, PMID:21357618, PMID:21457804, PMID:22350046, PMID:23553579, PMID:24033266, PMID:24487376, PMID:24664614, PMID:25741868, PMID:26325558, PMID:26345974, PMID:26753551, PMID:27144394, PMID:28492532 NCBI chrNW_004936777:1,545,293...1,561,109 JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chrNW_004936599:3,902,903...3,918,471 JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chrNW_004936551:5,040,084...5,050,384 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8696335 RGD:1600484 NCBI chrNW_004936477:17,406,551...17,413,615 JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar PMID:12605438, PMID:15615874, PMID:16479262, PMID:19429910, PMID:22581971, PMID:26571067, PMID:28492532, PMID:28847717 NCBI chrNW_004936494:10,657,902...10,673,176 JBrowse link
ADULT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO OMIM NCBI chrNW_004936578:492,267...705,282 JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia NFKB inhibitor alpha ISO OMIM NCBI chrNW_004936494:9,537,793...9,541,187 JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Absence of permanent teeth ClinVar PMID:10655546, PMID:11774072, PMID:11980847, PMID:14507861, PMID:16688110, PMID:16735991, PMID:16735994, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18622259, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:21081970, PMID:21168818, PMID:23028769, PMID:24033266, PMID:24281366, PMID:25741868, PMID:25978063, PMID:27408750, PMID:27508083, PMID:27535533, PMID:28384041, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386 NCBI chrNW_004936663:345,021...355,188 JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004936662:388,279...524,803 JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO OMIM NCBI chrNW_004936534:5,029,008...5,076,467 JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chrNW_004936521:1,570,863...1,613,410 JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004936492:8,415,997...8,544,149 JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766 JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chrNW_004936829:429,667...458,943 JBrowse link
G LOC101956136 ectodysplasin-A ISO OMIM NCBI chrNW_004936777:1,545,293...1,561,109 JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chrNW_004936569:1,309,140...1,321,923 JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin A receptor ISO OMIM NCBI chrNW_004936829:429,667...458,943 JBrowse link
G Edaradd EDAR associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia
CTD
ClinVar
PMID:17354266 NCBI chrNW_004936484:16,394,753...16,446,102 JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chrNW_004936829:335,977...397,252 JBrowse link
G Edar ectodysplasin A receptor ISO OMIM NCBI chrNW_004936829:429,667...458,943 JBrowse link
G Edaradd EDAR associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CTD
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chrNW_004936484:16,394,753...16,446,102 JBrowse link
G LOC101974817 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chrNW_004936829:261,017...333,910 JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated death domain ISO OMIM NCBI chrNW_004936484:16,394,753...16,446,102 JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated death domain ISO OMIM NCBI chrNW_004936484:16,394,753...16,446,102 JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO OMIM NCBI chrNW_004936474:11,341,415...11,351,066 JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO OMIM NCBI chrNW_004936599:3,541,359...3,543,206 JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chrNW_004936809:1,280,254...1,306,964 JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chrNW_004936491:13,288,986...13,516,878 JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766 JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28808699 NCBI chrNW_004936829:429,667...458,943 JBrowse link
G Edaradd EDAR associated death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
RGD
ClinVar
PMID:20222921, PMID:20979233, PMID:21626677, PMID:22013926, PMID:25741868, PMID:28492532 RGD:14398762 NCBI chrNW_004936484:16,394,753...16,446,102 JBrowse link
G LOC101956136 ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia RGD
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:31028034 RGD:14398763 NCBI chrNW_004936777:1,545,293...1,561,109 JBrowse link
G LOC101974817 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chrNW_004936829:261,017...333,910 JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chrNW_004936569:1,309,140...1,321,923 JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chrNW_004936480:17,051,902...17,416,335 JBrowse link
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004936521:1,570,863...1,613,410 JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004936492:8,415,997...8,544,149 JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chrNW_004936521:1,562,013...1,568,280 JBrowse link
Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO OMIM NCBI chrNW_004936541:7,155,963...7,242,466 JBrowse link
G Gna13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chrNW_004936541:7,583,911...7,623,485 JBrowse link
G LOC101958197 regulator of G protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chrNW_004936541:7,472,195...7,525,220 JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO OMIM NCBI chrNW_004936569:1,309,140...1,321,923 JBrowse link
solitary median maxillary central incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO OMIM NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Single upper central incisor ClinVar PMID:18791198, PMID:19346217, PMID:20157829, PMID:26080100, PMID:26467025, PMID:28492532 NCBI chrNW_004936508:7,103,578...7,106,588 JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO OMIM NCBI chrNW_004936477:17,406,551...17,413,615 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    Stomatognathic Diseases 863
      tooth disease 250
        anodontia 36
          ADULT syndrome 1
          Aloi Tomasini Isaia Syndrome 0
          Anodontia of Permanent Dentition 1
          Axenfeld-Rieger syndrome type 1 3
          Axenfeld-Rieger syndrome type 2 0
          Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
          Cleft Palate, Deafness, and Oligodontia 0
          Deafness Oligodontia Syndrome 0
          Dermatoosteolysis Kirghizian Type 0
          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
          Dysmyelinating Leukodystrophy with Oligodontia 2
          Ectodermal Dysplasia, Trichoodontoonychial Type 0
          Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
          Hypodontia Oligodontia with Orofacial Cleft 0
          Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Mehta Lewis Patton Syndrome 0
          Microdontia Hypodontia Short Stature 0
          Oligodontia-Colorectal Cancer Syndrome 3
          Pinheiro Freire-Maia Miranda Syndrome 0
          Schopf-Schulz-Passarge syndrome 1
          Split-Hand and Split-Foot With Hypodontia 0
          Taurodontia, Absent Teeth, Sparse Hair 0
          Thai Symphalangism Syndrome 0
          Thumb Deformity, Alopecia, Pigmentation Anomaly 0
          X-Linked Hypodontia 0
          Zadik Barak Levin Syndrome 0
          hypohidrotic ectodermal dysplasia + 12
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
          solitary median maxillary central incisor 2
          tooth and nail syndrome 1
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      nervous system disease 9416
        sensory system disease 4559
          mouth disease 655
            tooth disease 250
              Tooth Abnormalities 138
                anodontia 36
                  ADULT syndrome 1
                  Aloi Tomasini Isaia Syndrome 0
                  Anodontia of Permanent Dentition 1
                  Axenfeld-Rieger syndrome type 1 3
                  Axenfeld-Rieger syndrome type 2 0
                  Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                  Cleft Palate, Deafness, and Oligodontia 0
                  Deafness Oligodontia Syndrome 0
                  Dermatoosteolysis Kirghizian Type 0
                  Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
                  Dysmyelinating Leukodystrophy with Oligodontia 2
                  Ectodermal Dysplasia, Trichoodontoonychial Type 0
                  Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
                  Hypodontia Oligodontia with Orofacial Cleft 0
                  Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
                  Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                  Mehta Lewis Patton Syndrome 0
                  Microdontia Hypodontia Short Stature 0
                  Oligodontia-Colorectal Cancer Syndrome 3
                  Pinheiro Freire-Maia Miranda Syndrome 0
                  Schopf-Schulz-Passarge syndrome 1
                  Split-Hand and Split-Foot With Hypodontia 0
                  Taurodontia, Absent Teeth, Sparse Hair 0
                  Thai Symphalangism Syndrome 0
                  Thumb Deformity, Alopecia, Pigmentation Anomaly 0
                  X-Linked Hypodontia 0
                  Zadik Barak Levin Syndrome 0
                  hypohidrotic ectodermal dysplasia + 12
                  hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
                  solitary median maxillary central incisor 2
                  tooth and nail syndrome 1
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.