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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;   complete absence of teeth;   selective tooth agenesis with or without orofacial cleft;   total anodontia of permanent and deciduous teeth
 narrow_synonym: HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT;   Non-syndromic oligodontia;   PARTIAL CONGENITAL ABSENCE OF TEETH;   selective tooth agenesis 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.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
anodontia term browser
Symbol Object Name Qualifiers 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
Ensembl chrNW_004936541:7,211,985...7,242,470 		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
Ensembl chrNW_004936787:306,941...310,166 		JBrowse link
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		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
Ensembl chrNW_004936478:17,126,911...17,403,011 		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
Ensembl chrNW_004936475:7,354,642...7,358,553 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992 		JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168 		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
Ensembl chrNW_004936599:3,902,897...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
Ensembl 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
Ensembl chrNW_004936514:7,037,639...7,045,793 		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
Ensembl chrNW_004936477:17,409,191...17,412,919 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 More... NCBI chrNW_004936494:10,657,902...10,673,176
Ensembl chrNW_004936494:10,658,077...10,672,251 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:28492532 NCBI chrNW_004936494:10,675,534...11,157,829
Ensembl chrNW_004936494:10,676,235...11,156,083 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Anodontia of permanent dentition ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chrNW_004936543:7,324,748...7,329,774 JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362 		JBrowse link
G Ap1ar adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,108,242...3,144,957
Ensembl chrNW_004936563:3,108,197...3,144,980 		JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,011,476...3,048,477
Ensembl chrNW_004936563:3,011,502...3,047,875 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,455,205...3,474,955
Ensembl chrNW_004936563:3,455,045...3,475,417 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,348,052...3,350,623
Ensembl chrNW_004936563:3,348,052...3,350,623 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		JBrowse link
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... 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
Ensembl chrNW_004936662:390,894...516,485 		JBrowse link
G Tifa TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,151,515...3,159,071
Ensembl chrNW_004936563:3,152,049...3,158,999 		JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936563:3,372,603...3,455,123 JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chrNW_004936657:2,805,947...2,848,180
Ensembl chrNW_004936657:2,805,959...2,848,180 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:614258 PMID:20640464 PMID:21855841 PMID:22855961 PMID:25339210 More... NCBI chrNW_004936521:1,570,863...1,613,410
Ensembl chrNW_004936521:1,570,857...1,614,409 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chrNW_004936492:8,415,997...8,544,149
Ensembl chrNW_004936492:8,415,997...8,541,762 		JBrowse link
ectodermal dysplasia 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: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		JBrowse link
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
Ensembl chrNW_004936635:1,303,858...1,337,868 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:30425301 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers 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
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,946,442...8,948,320 JBrowse link
G LOC101965130 signal recognition particle 54 kDa protein ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955
Ensembl chrNW_004936494:9,227,321...9,246,955 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,443,176...9,467,697 JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: GAPO syndrome ClinVar
OMIM		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chrNW_004936491:13,288,986...13,516,878
Ensembl chrNW_004936491:13,288,717...13,516,984 		JBrowse link
hypohidrotic ectodermal dysplasia 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: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		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 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21448560 PMID:21626677 PMID:25741868 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chrNW_004936533:1,857,685...1,874,973
Ensembl chrNW_004936533:1,857,666...1,876,120 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chrNW_004936657:2,805,947...2,848,180
Ensembl chrNW_004936657:2,805,959...2,848,180 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy OMIM
ClinVar		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chrNW_004936521:1,570,863...1,613,410
Ensembl chrNW_004936521:1,570,857...1,614,409 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chrNW_004936492:8,415,997...8,544,149
Ensembl chrNW_004936492:8,415,997...8,541,762 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chrNW_004936521:1,562,013...1,568,280
Ensembl chrNW_004936521:1,561,992...1,568,280 		JBrowse link
Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470 		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
Ensembl chrNW_004936541:7,583,216...7,623,375 		JBrowse link
G Rgs9 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
Ensembl chrNW_004936541:7,458,539...7,525,220 		JBrowse link
Schopf-Schulz-Passarge syndrome 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: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar		 PMID:25741868 PMID:31089205 PMID:31695177 NCBI chrNW_004936867:698,932...711,170
Ensembl chrNW_004936867:698,932...711,144 		JBrowse link
solitary median maxillary central incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: SMMCI SYNDROME | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More... NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599 		JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... NCBI chrNW_004936508:7,103,578...7,106,588
Ensembl chrNW_004936508:7,104,066...7,107,597 		JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crmp1 collapsin response mediator protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:17,997,213...18,035,266
Ensembl chrNW_004936477:17,996,462...18,055,405 		JBrowse link
G CUNH4orf50 chromosome unknown C4orf50 homolog ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:18,059,629...18,153,997 JBrowse link
G Cytl1 cytokine like 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:17,508,833...17,512,608
Ensembl chrNW_004936477:17,508,823...17,512,663 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:17,940,792...17,992,996
Ensembl chrNW_004936477:17,937,677...17,993,727 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:17,835,479...17,938,014
Ensembl chrNW_004936477:17,837,964...17,937,975 		JBrowse link
G Jakmip1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:18,177,288...18,280,286
Ensembl chrNW_004936477:18,151,372...18,280,377 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome OMIM
ClinVar		 PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More... NCBI chrNW_004936477:17,406,551...17,413,615
Ensembl chrNW_004936477:17,409,191...17,412,919 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:17,534,264...17,813,224
Ensembl chrNW_004936477:17,533,935...17,812,468 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Stomatognathic Diseases 1245
      tooth disease 408
        anodontia 68
          ADULT syndrome 1
          Aloi Tomasini Isaia Syndrome 0
          Anodontia of Permanent Dentition 1
          Axenfeld-Rieger syndrome type 1 11
          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 3
          Ectodermal Dysplasia, Trichoodontoonychial Type 0
          GAPO syndrome 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
          SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
          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 + 24
          hypomyelinating leukodystrophy 7 5
          solitary median maxillary central incisor 2
          tooth and nail syndrome 9
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            mouth disease 930
              tooth disease 408
                Tooth Abnormalities 269
                  anodontia 68
                    ADULT syndrome 1
                    Aloi Tomasini Isaia Syndrome 0
                    Anodontia of Permanent Dentition 1
                    Axenfeld-Rieger syndrome type 1 11
                    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 3
                    Ectodermal Dysplasia, Trichoodontoonychial Type 0
                    GAPO syndrome 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
                    SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
                    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 + 24
                    hypomyelinating leukodystrophy 7 5
                    solitary median maxillary central incisor 2
                    tooth and nail syndrome 9
paths to the root