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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;   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.



show annotations for term's descendants           Sort by:
 
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 chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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 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: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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 chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8696335 RGD:1600484 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar Annotator: match by term: Hypodontia
ClinVar PMID:11827258 PMID:12605438 PMID:14607846 PMID:15615874 PMID:16236760 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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 ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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 ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20716751 PMID:20940358 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name 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
OMIM
RGD
PMID:8696334 PMID:9507389 PMID:9630076 PMID:9683615 PMID:9736768 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268
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:24033266 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
ectodermal dysplasia 10A 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: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO 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/NAIL TYPE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:129490
ClinVar
OMIM
RGD
PMID:9536098 PMID:10431241 PMID:11035039 PMID:11279189 PMID:15013427 More... RGD:1598883 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 OMIM:129490
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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 chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... 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 OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989 PMID:11780064 PMID:17354266 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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 ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by OMIM:614940
OMIM
ClinVar
PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name 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 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: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by OMIM:614941
OMIM
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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 ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE ClinVar
OMIM
PMID:27838789 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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 ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM
ClinVar
PMID:30425301 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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 chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
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
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
RGD
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
ClinVar Annotator: match by OMIM:612132
OMIM
ClinVar
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 More... NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
GAPO syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
hypohidrotic ectodermal dysplasia 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: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Eda ectodysplasin-A ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
RGD
PMID:8696334 PMID:9507389 PMID:9630076 PMID:9683615 PMID:9736768 More... RGD:14398763 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268
JBrowse link
G Edar ectodysplasin-A receptor ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
MouseDO
ClinVar
PMID:10431241 PMID:11279189 PMID:18065779 PMID:18231121 PMID:18561327 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR-associated death domain IAGP
ISO
DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, HYPOHIDROTIC
ClinVar
RGD
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 More... RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar PMID:25741868 PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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 Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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:22855961 PMID:25741868 PMID:27029625 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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 ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome
ClinVar Annotator: match by OMIM:608615
OMIM
ClinVar
PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Gna13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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 ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21484994 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name 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 ClinVar
OMIM
PMID:31089205 PMID:31695177 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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 ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
ClinVar Annotator: match by term: Single maxillary central incisor
ClinVar Annotator: match by OMIM:147250
OMIM
ClinVar
PMID:9302262 PMID:11471164 PMID:12567406 PMID:15103725 PMID:25741868 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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 More... NCBI chr 6:9,040,123...9,043,336
Ensembl chr 6:9,036,434...9,053,301
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 ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar Annotator: match by term: Tooth-and-Nail Syndrome
ClinVar Annotator: match by OMIM:189500
OMIM
ClinVar
PMID:9484139 PMID:11369996 PMID:12807959 PMID:15354328 PMID:16327884 More... NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Stomatognathic Diseases 1012
      tooth disease 300
        anodontia 41
          ADULT syndrome 1
          Aloi Tomasini Isaia Syndrome 0
          Anodontia of Permanent Dentition 0
          Axenfeld-Rieger syndrome type 1 5
          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 1
          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 + 15
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
          solitary median maxillary central incisor 2
          tooth and nail syndrome 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          mouth disease 786
            tooth disease 300
              Tooth Abnormalities 156
                anodontia 41
                  ADULT syndrome 1
                  Aloi Tomasini Isaia Syndrome 0
                  Anodontia of Permanent Dentition 0
                  Axenfeld-Rieger syndrome type 1 5
                  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 1
                  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 + 15
                  hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                  solitary median maxillary central incisor 2
                  tooth and nail syndrome 1
paths to the root