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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:dental enamel hypoplasia
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Accession:DOID:693 term browser browse the term
Definition:An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors.
Synonyms:exact_synonym: Enamel Ageneses;   Enamel Agenesis;   Enamel Hypoplasia;   Enamel Hypoplasias;   Hypoplastic Enamel;   Molar Incisor Hypomineralization
 primary_id: MESH:D003744;   RDO:0002164
 xref: NCI:C34529
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
amelogenesis imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:8406474 RGD:1300370 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:101,388,148...101,388,819
Ensembl chr 9:101,388,151...101,388,833
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:15649948, PMID:17652207, PMID:25741868, PMID:28492532 NCBI chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358, PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629, PMID:19407157 NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 6:124,874,151...124,903,949
Ensembl chr 6:124,874,151...124,876,710
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Relt RELT, TNF receptor ISS MouseDO NCBI chr 1:165,884,407...165,902,022
Ensembl chr 1:165,884,407...165,901,923
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
ClinVar Annotator: match by OMIM:612529
OMIM
ClinVar
PMID:15744043, PMID:16246936, PMID:18096894, PMID:19966041, PMID:21597265, PMID:22243262, PMID:23355523, PMID:23625376, PMID:25741868, PMID:26502894, PMID:28473773, PMID:28492532, PMID:28659819 NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA3
ClinVar Annotator: match by OMIM:613211
OMIM
ClinVar
PMID:19853237, PMID:20938048, PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA4 OMIM
ClinVar
PMID:22901946 NCBI chr14:17,575,295...17,583,214
Ensembl chr14:17,575,758...17,582,823
JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA5 OMIM
ClinVar
PMID:23375655, PMID:24621671 NCBI chr 6:126,015,799...126,158,727
Ensembl chr 6:126,018,841...126,153,867
JBrowse link
Amelogenesis Imperfecta Hypomaturation Type, 2A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 ClinVar
OMIM
PMID:27693231 NCBI chr 6:124,874,151...124,903,949
Ensembl chr 6:124,874,151...124,876,710
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
ClinVar Annotator: match by OMIM:104530
OMIM
ClinVar
PMID:7698759, PMID:7706760, PMID:8824879, PMID:8983017, PMID:9205497, PMID:9242513, PMID:9767254, PMID:10577906, PMID:11023379, PMID:11298117, PMID:11451332, PMID:11689492, PMID:15311214, PMID:15538630, PMID:15663509, PMID:16439963, PMID:16473856, PMID:16674655, PMID:17476356, PMID:21801158, PMID:23632796, PMID:23958762, PMID:25708563, PMID:25741868, PMID:27062385, PMID:27375110, PMID:28492532, PMID:28830826, PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
ClinVar Annotator: match by OMIM:104500
ClinVar
OMIM
PMID:11487571, PMID:11978766, PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:22414746, PMID:28334996, PMID:28492532, PMID:11487571 RGD:1598908 NCBI chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar
PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:28492532 NCBI chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by OMIM:301200
OMIM
ClinVar
PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IE
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IF OMIM
ClinVar
PMID:24858907, PMID:26502894 NCBI chr14:21,239,887...21,252,534
Ensembl chr14:21,240,398...21,252,538
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM
ClinVar
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IH OMIM
ClinVar
PMID:24305999, PMID:24319098 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
JBrowse link
Amelogenesis Imperfecta Type 1J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IJ ClinVar
OMIM
PMID:27843125, PMID:28513613 NCBI chr 1:100,226,311...100,234,536
Ensembl chr 1:100,227,157...100,234,040
JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA1 ClinVar
OMIM
PMID:204700, PMID:15235027, PMID:21597265, PMID:23355523, PMID:28611678 NCBI chr 1:99,828,944...99,834,642
Ensembl chr 1:99,829,351...99,834,216
JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA
ClinVar Annotator: match by OMIM:130900
OMIM
ClinVar
PMID:18252228, PMID:18484629, PMID:19220331, PMID:19407157, PMID:22414746, PMID:25741868 NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr14:21,282,488...21,301,966
Ensembl chr14:21,286,510...21,299,068
JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:30506946, PMID:32052416 NCBI chr 1:165,884,407...165,902,022
Ensembl chr 1:165,884,407...165,901,923
JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Verloes Bourguignon syndrome
ClinVar Annotator: match by OMIM:601216
OMIM
ClinVar
PMID:19213025, PMID:19344874, PMID:25669657, PMID:25741868, PMID:25899461, PMID:28492532, PMID:29625025 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438, PMID:28381441 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar PMID:12402331, PMID:16086329, PMID:16088892, PMID:19105186, PMID:25525159, PMID:25741868, PMID:26387595, PMID:27302843, PMID:28492532, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
ClinVar
OMIM
PMID:1301993, PMID:2063923, PMID:9398847, PMID:9398848, PMID:10384394, PMID:10447258, PMID:10480353, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16086329, PMID:16088892, PMID:16141001, PMID:17055079, PMID:19105186, PMID:20952722, PMID:21031596, PMID:21846392, PMID:22871920, PMID:23757202, PMID:24503136, PMID:25412400, PMID:25525159, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26387595, PMID:26643206, PMID:27090541, PMID:27302843, PMID:27872819, PMID:27882258, PMID:28468868, PMID:28492532, PMID:30311386, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
Jalili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352, PMID:15173235, PMID:19200525, PMID:19200527, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,392,698...11,515,406
Ensembl chr10:11,392,625...11,512,600
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,808,780...10,829,507
Ensembl chr10:10,808,823...10,831,535
JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,966,819...10,989,937
Ensembl chr10:10,967,658...10,989,936
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,090,200...11,144,289
Ensembl chr10:11,090,314...11,143,881
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,059,701...11,085,186
Ensembl chr10:11,060,313...11,085,210
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,154,459...11,177,063
Ensembl chr10:11,154,658...11,174,861
JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,990,034...11,035,493
Ensembl chr10:10,990,034...11,035,484
JBrowse link
G LOC100361104 CG10869-like ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,897,269...10,944,328 JBrowse link
G LOC360479 similar to hypothetical protein ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,794,441...10,808,665
Ensembl chr10:10,794,445...10,808,585
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,832,573...10,881,999
Ensembl chr10:10,833,519...10,881,977
JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,045,924...11,055,154
Ensembl chr10:11,046,024...11,055,158
JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,829,866...10,831,782
Ensembl chr10:10,829,867...10,831,782
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,146,359...11,153,936
Ensembl chr10:11,146,359...11,153,936
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Kohlschutter's syndrome
ClinVar Annotator: match by term: EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA
ClinVar Annotator: match by OMIM:226750
OMIM
ClinVar
PMID:3236364, PMID:4372200, PMID:8133980, PMID:16411202, PMID:22424600, PMID:22482807, PMID:23086778, PMID:25565929, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,774,702...10,784,276
Ensembl chr10:10,774,639...10,784,277
JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,766,208...10,768,044
Ensembl chr10:10,766,208...10,767,389
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,240,135...11,284,325
Ensembl chr10:11,240,138...11,284,332
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,204,616...11,222,975
Ensembl chr10:11,206,226...11,223,370
JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:10,889,435...10,894,200
Ensembl chr10:10,889,488...10,893,467
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr10:11,121,041...11,131,548
Ensembl chr10:11,121,041...11,131,548
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863, PMID:11470490, PMID:12457340, PMID:14974090, PMID:14981729, PMID:15192806, PMID:15879313, PMID:16531323, PMID:16816024, PMID:17901047, PMID:18003637, PMID:18946008, PMID:19057520, PMID:19338053, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23606748, PMID:25388818, PMID:25398053, PMID:25741868, PMID:27226478, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM
ClinVar
PMID:29878199, PMID:30082715 NCBI chr19:32,857,984...33,081,359
Ensembl chr19:32,855,343...33,080,998
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:21070929, PMID:24686847, PMID:24995871, PMID:25620204, PMID:25741868, PMID:28319323, PMID:28492532, PMID:29270977, PMID:30311386, PMID:30707351 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome OMIM
ClinVar
PMID:9467018, PMID:9783705 NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Stomatognathic Diseases 976
      tooth disease 279
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
            Ameloonychohypohidrotic Syndrome 0
            Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
            Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 0
            Oculodentodigital Dysplasia, Autosomal Recessive 1
            Pfeiffer Palm Teller Syndrome 0
            Seow Najjar Syndrome 0
            Singleton Merten Syndrome + 2
            Trichoodontoonychial Dysplasia 0
            amelogenesis imperfecta + 52
            trichodontoosseous syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                  Ameloonychohypohidrotic Syndrome 0
                  Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                  Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 0
                  Oculodentodigital Dysplasia, Autosomal Recessive 1
                  Pfeiffer Palm Teller Syndrome 0
                  Seow Najjar Syndrome 0
                  Singleton Merten Syndrome + 2
                  Trichoodontoonychial Dysplasia 0
                  amelogenesis imperfecta + 52
                  trichodontoosseous 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.