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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 Agenesis;   Enamel Hypoplasia;   Enamel Hypoplasias;   Hypoplastic Enamel;   enamel ageneses;   molar incisor hypomineralization
 primary_id: MESH:D003744
 xref: EFO:0005321;   EFO:1001304;   NCI:C34529
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
dental enamel hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator ISO RGD PMID:31942562 RGD:126928119 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
amelogenesis imperfecta 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 ClinVar PMID:27843125 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802 		JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD		 PMID:8406474 RGD:1300370 NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 4:84,185,041...84,593,236
Ensembl chr 4:84,193,332...84,593,512 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:129,910,002...129,916,311
Ensembl chr 5:129,909,997...129,916,311 		JBrowse link
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia		 CTD
ClinVar		 PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IMP
ISO		 DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
G Klk4 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228 		JBrowse link
G Lamb3 laminin, beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186 		JBrowse link
G Lamc2 laminin, gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:25669657 PMID:35998423 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513 		JBrowse link
G Relt RELT tumor necrosis factor receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
G Sp6 trans-acting transcription factor 6 ISO RGD PMID:22676574 RGD:10047189 NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		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 (enamelysin) ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM:612529		 OMIM
CTD
ClinVar
MouseDO		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3
OMIM:613211		 OMIM
CTD
ClinVar
MouseDO		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		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 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22901946 PMID:25741868 NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179 		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 (sodium/potassium/calcium exchanger), member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5		 OMIM
CTD
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Lamb3 laminin, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA		 OMIM
CTD
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186 		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 PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Enam enamelin ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
OMIM:104500		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... RGD:1598908 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		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 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM:301200		 OMIM
CTD
ClinVar
MouseDO		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		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 1F
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 5:88,603,850...88,616,390
Ensembl chr 5:88,603,850...88,616,390 		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: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin beta 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H		 OMIM
CTD
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27843125 PMID:28513613 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802 		JBrowse link
Amelogenesis Imperfecta Type 1K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp6 trans-acting transcription factor 6 ISO OMIM NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560 		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 (prostase, enamel matrix, prostate) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1		 OMIM
CTD
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228 		JBrowse link
amelogenesis imperfecta 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA		 OMIM
CTD
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		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 chr 5:88,523,967...88,533,775
Ensembl chr 5:88,523,967...88,533,775 		JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT tumor necrosis factor receptor ISO
IAGP		 ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM:618386		 OMIM
ClinVar
MouseDO		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		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
IAGP		 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
CTD Direct Evidence: marker/mechanism
OMIM:601216		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		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: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 5:3,689,961...3,697,936
Ensembl chr 5:3,682,932...3,707,185 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,782,152...4,796,827
Ensembl chr16:4,782,090...4,796,826
Ensembl chr16:4,782,090...4,796,826 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606 		JBrowse link
G Mgrn1 mahogunin, ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G Nmral1 NmrA-like family domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896 		JBrowse link
G Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G Rogdi rogdi homolog ISO
IAGP		 OMIM:226750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome		 OMIM
MouseDO
CTD
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		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 (sodium/bile acid cotransporter family), member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632 		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 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		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:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc3 ATP-binding cassette, sub-family C member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823 		JBrowse link
G Abi3 ABI family member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,720,898...95,733,302
Ensembl chr11:95,720,900...95,733,302 		JBrowse link
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,447,928...94,492,822
Ensembl chr11:94,447,928...94,492,697 		JBrowse link
G Ankrd40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,218,827...94,232,673
Ensembl chr11:94,218,827...94,232,667 		JBrowse link
G Atp5mc1 ATP synthase membrane subunit c locus 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,963,619...95,966,520
Ensembl chr11:95,959,678...95,966,496 		JBrowse link
G B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,754,385...95,805,786
Ensembl chr11:95,756,769...95,805,717 		JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024 		JBrowse link
G Calcoco2 calcium binding and coiled-coil domain 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,990,195...96,015,362
Ensembl chr11:95,990,152...96,002,790 		JBrowse link
G Chad chondroadherin ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,455,873...94,459,953
Ensembl chr11:94,455,873...94,459,953 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,031,273...95,037,116
Ensembl chr11:95,031,273...95,037,089 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,535,798...94,544,611
Ensembl chr11:94,535,822...94,544,790 		JBrowse link
G Epn3 epsin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,380,425...94,390,800
Ensembl chr11:94,380,425...94,390,800 		JBrowse link
G Fam117a family with sequence similarity 117, member A ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,227,844...95,272,698
Ensembl chr11:95,227,844...95,272,698 		JBrowse link
G Gip gastric inhibitory polypeptide ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657 		JBrowse link
G Gngt2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,733,045...95,736,557
Ensembl chr11:95,728,042...95,736,560 		JBrowse link
G Hoxb13 homeobox B13 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:96,085,142...96,087,436
Ensembl chr11:96,085,142...96,088,273 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766 		JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627 		JBrowse link
G Kat7 K(lysine) acetyltransferase 7 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,162,683...95,201,030
Ensembl chr11:95,165,085...95,201,072 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,520,603...94,536,049
Ensembl chr11:94,520,593...94,536,042 		JBrowse link
G Luc7l3 LUC7-like 3 (S. cerevisiae) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,181,899...94,213,196
Ensembl chr11:94,178,716...94,212,814 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,544,593...94,552,758
Ensembl chr11:94,544,593...94,550,915 		JBrowse link
G Mycbpap MYCBP associated protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,392,173...94,423,219
Ensembl chr11:94,392,173...94,412,568 		JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561 		JBrowse link
G Nxph3 neurexophilin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,400,671...95,405,380
Ensembl chr11:95,400,671...95,405,396 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase, isoenzyme 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,917,084...94,932,197
Ensembl chr11:94,917,084...94,932,180 		JBrowse link
G Phb1 prohibitin 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Phospho1 phosphatase, orphan 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,715,326...95,722,966
Ensembl chr11:95,715,325...95,722,966 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,882,038...94,897,724
Ensembl chr11:94,881,861...94,897,725 		JBrowse link
G Rsad1 radical S-adenosyl methionine domain containing 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,430,624...94,447,690
Ensembl chr11:94,430,624...94,440,081 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,900,213...94,916,913
Ensembl chr11:94,900,705...94,916,913 		JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153 		JBrowse link
G Slc35b1 solute carrier family 35, member B1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,275,696...95,282,602
Ensembl chr11:95,275,518...95,282,602 		JBrowse link
G Snf8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,925,711...95,938,256
Ensembl chr11:95,925,711...95,938,256 		JBrowse link
G Spata20 spermatogenesis associated 20 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,369,730...94,376,136
Ensembl chr11:94,369,730...94,377,005 		JBrowse link
G Spop speckle-type BTB/POZ protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,304,909...95,384,236
Ensembl chr11:95,304,906...95,384,232 		JBrowse link
G Tac4 tachykinin 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,152,355...95,160,091
Ensembl chr11:95,152,355...95,160,091 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,668,043...94,673,529
Ensembl chr11:94,668,043...94,673,529 		JBrowse link
G Ttll6 tubulin tyrosine ligase-like family, member 6 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:96,015,283...96,057,008
Ensembl chr11:96,024,612...96,056,277 		JBrowse link
G Ube2z ubiquitin-conjugating enzyme E2Z ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,938,257...95,956,190
Ensembl chr11:95,938,258...95,956,214 		JBrowse link
G Xylt2 xylosyltransferase II ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,554,671...94,568,341
Ensembl chr11:94,554,677...94,568,341 		JBrowse link
G Zfp652 zinc finger protein 652 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,639,893...95,655,541
Ensembl chr11:95,603,499...95,725,941 		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 chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Stomatognathic Diseases 1328
      tooth disease 439
        teeth hard tissue disease 114
          dental enamel hypoplasia 105
            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 2
            Pfeiffer Palm Teller Syndrome 0
            Seow Najjar Syndrome 0
            Singleton Merten Syndrome + 2
            Trichoodontoonychial Dysplasia 0
            amelogenesis imperfecta + 57
            trichodontoosseous syndrome 44
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            mouth disease 1001
              tooth disease 439
                Tooth Abnormalities 281
                  dental enamel hypoplasia 105
                    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 2
                    Pfeiffer Palm Teller Syndrome 0
                    Seow Najjar Syndrome 0
                    Singleton Merten Syndrome + 2
                    Trichoodontoonychial Dysplasia 0
                    amelogenesis imperfecta + 57
                    trichodontoosseous syndrome 44
paths to the root