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ONTOLOGY REPORT - ANNOTATIONS


Term:amelogenesis imperfecta
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Accession:DOID:2187 term browser browse the term
Definition:A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
Synonyms:exact_synonym: Congenital Enamel Hypoplasia
 related_synonym: Dental hypomineralization
 primary_id: MESH:D000567
 alt_id: OMIA:002015;   RDO:0001370
 xref: GARD:5791;   OMIM:PS104500;   ORDO:88661
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amelx amelogenin, X-linked JBrowse link X 26,439,197 26,450,495 RGD:1300370
RGD:8554872
G Arhgap6 Rho GTPase activating protein 6 JBrowse link X 26,314,561 26,845,242 RGD:8554872
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 JBrowse link 9 101,388,148 101,388,819 RGD:8554872
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:8554872
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:11554173
RGD:8554872
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11560487
RGD:11560491
G Fam83h family with sequence similarity 83, member H JBrowse link 7 117,062,748 117,070,936 RGD:11554173
G Gpr68 G protein-coupled receptor 68 JBrowse link 6 124,874,151 124,903,949 RGD:8554872
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:8554872
G Relt RELT, TNF receptor JBrowse link 1 165,884,407 165,902,022 RGD:13592920
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:8554872
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:7240710
RGD:8554872
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:7240710
RGD:8554872
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Odaph odontogenesis associated phosphoprotein JBrowse link 14 17,575,295 17,583,214 RGD:7240710
RGD:8554872
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc24a4 solute carrier family 24 member 4 JBrowse link 6 126,015,799 126,158,727 RGD:7240710
RGD:8554872
Amelogenesis Imperfecta Hypomaturation Type, 2A6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr68 G protein-coupled receptor 68 JBrowse link 6 124,874,151 124,903,949 RGD:8554872
RGD:7240710
amelogenesis imperfecta type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:8554872
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:1598908
RGD:8554872
RGD:7240710
amelogenesis imperfecta type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:7240710
RGD:8554872
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:8554872
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:8554872
amelogenesis imperfecta type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amelx amelogenin, X-linked JBrowse link X 26,439,197 26,450,495 RGD:7240710
RGD:8554872
G Arhgap6 Rho GTPase activating protein 6 JBrowse link X 26,314,561 26,845,242 RGD:8554872
amelogenesis imperfecta type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ambn ameloblastin JBrowse link 14 21,239,887 21,252,534 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:7240710
RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
amelogenesis imperfecta type 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb6 integrin subunit beta 6 JBrowse link 3 46,652,624 46,775,362 RGD:7240710
RGD:8554872
Amelogenesis Imperfecta Type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp4 acid phosphatase 4 JBrowse link 1 100,226,311 100,234,536 RGD:8554872
RGD:7240710
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klk4 kallikrein-related peptidase 4 JBrowse link 1 99,828,944 99,834,642 RGD:8554872
RGD:7240710
amelogenesis imperfecta type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam83h family with sequence similarity 83, member H JBrowse link 7 117,062,748 117,070,936 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amtn amelotin JBrowse link 14 21,282,488 21,301,966 RGD:7240710
amelogenesis imperfecta type 3C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Relt RELT, TNF receptor JBrowse link 1 165,884,407 165,902,022 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:7240710
RGD:8554872
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710
RGD:8554872
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:8554872
Heimler syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:7240710
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
Jalili syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 9 43,049,587 43,088,690 RGD:7240710
RGD:8554872
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:7240710
Kohlschutter-Tonz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy9 adenylate cyclase 9 JBrowse link 10 11,392,698 11,515,406 RGD:8554872
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 JBrowse link 10 10,808,780 10,829,507 RGD:8554872
G Cdip1 cell death-inducing p53 target 1 JBrowse link 10 10,966,819 10,989,937 RGD:8554872
G Coro7 coronin 7 JBrowse link 10 11,090,200 11,144,289 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 JBrowse link 10 11,059,701 11,085,186 RGD:8554872
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:8554872
G Hmox2 heme oxygenase 2 JBrowse link 10 10,990,034 11,035,493 RGD:8554872
G LOC100361104 CG10869-like JBrowse link 10 10,897,269 10,944,328 RGD:8554872
G LOC360479 similar to hypothetical protein JBrowse link 10 10,794,441 10,808,665 RGD:8554872
G Mgrn1 mahogunin ring finger 1 JBrowse link 10 10,832,573 10,881,999 RGD:8554872
G Nmral1 NmrA like redox sensor 1 JBrowse link 10 11,045,924 11,055,154 RGD:8554872
G Nudt16l1 nudix hydrolase 16 like 1 JBrowse link 10 10,829,866 10,831,782 RGD:8554872
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
G Rogdi rogdi atypical leucine zipper JBrowse link 10 10,761,477 10,766,096 RGD:7240710
RGD:8554872
G Septin12 septin 12 JBrowse link 10 10,774,702 10,784,276 RGD:8554872
G Smim22 small integral membrane protein 22 JBrowse link 10 10,766,208 10,768,044 RGD:8554872
G Srl sarcalumenin JBrowse link 10 11,240,135 11,284,325 RGD:8554872
G Tfap4 transcription factor AP-4 JBrowse link 10 11,204,616 11,222,975 RGD:8554872
G Ubald1 UBA-like domain containing 1 JBrowse link 10 10,889,435 10,894,200 RGD:8554872
G Vasn vasorin JBrowse link 10 11,121,041 11,131,548 RGD:8554872
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc10a7 solute carrier family 10, member 7 JBrowse link 19 32,857,984 33,081,359 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Stomatognathic Diseases 931
      tooth disease 272
        teeth hard tissue disease 62
          dental enamel hypoplasia 54
            amelogenesis imperfecta 52
              Amelogenesis Imperfecta Hypomaturation Type + 6
              Amelogenesis Imperfecta Type 1J 1
              Cone Rod Dystrophy Amelogenesis Imperfecta 0
              Heimler syndrome 1 3
              Jalili syndrome 1
              Kohlschutter-Tonz syndrome 21
              Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
              X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 + 1
              amelogenesis imperfecta type 1A 1
              amelogenesis imperfecta type 1B 2
              amelogenesis imperfecta type 1C 3
              amelogenesis imperfecta type 1E 2
              amelogenesis imperfecta type 1F 1
              amelogenesis imperfecta type 1G 2
              amelogenesis imperfecta type 1H 1
              amelogenesis imperfecta type 3 + 3
              amelogenesis imperfecta type 4 1
              brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          mouth disease 720
            tooth disease 272
              Tooth Abnormalities 141
                dental enamel hypoplasia 54
                  amelogenesis imperfecta 52
                    Amelogenesis Imperfecta Hypomaturation Type + 6
                    Amelogenesis Imperfecta Type 1J 1
                    Cone Rod Dystrophy Amelogenesis Imperfecta 0
                    Heimler syndrome 1 3
                    Jalili syndrome 1
                    Kohlschutter-Tonz syndrome 21
                    Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                    X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 + 1
                    amelogenesis imperfecta type 1A 1
                    amelogenesis imperfecta type 1B 2
                    amelogenesis imperfecta type 1C 3
                    amelogenesis imperfecta type 1E 2
                    amelogenesis imperfecta type 1F 1
                    amelogenesis imperfecta type 1G 2
                    amelogenesis imperfecta type 1H 1
                    amelogenesis imperfecta type 3 + 3
                    amelogenesis imperfecta type 4 1
                    brachyolmia-amelogenesis imperfecta 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.