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: amelogenesis imperfecta
Accession: DOID:2187
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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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
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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
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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
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
PMID:25741868
NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
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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
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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
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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
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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
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LOC100911516
coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta
ClinVar
NCBI chr 9:101,106,892...101,107,591
Ensembl chr 9:101,106,892...101,107,575
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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
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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
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Relt
RELT, TNF receptor
ISS
MouseDO
NCBI chr 1:165,884,407...165,902,022
Ensembl chr 1:165,884,407...165,901,923
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ambn
ameloblastin
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IF ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IF
OMIM ClinVar
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532
NCBI chr14:21,239,887...21,252,534
Ensembl chr14:21,240,398...21,252,538
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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
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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
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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
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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
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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
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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
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Amtn
amelotin
ISO
OMIM
NCBI chr14:21,282,488...21,301,966
Ensembl chr14:21,286,510...21,299,068
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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
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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
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Dental anomalies and short stature 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
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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
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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
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Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
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:30362618 PMID:30733538 PMID:31374812 PMID:31831025
NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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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
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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
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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
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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
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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
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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 Ensembl chr10:11,090,314...11,143,881
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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
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Dnaaf8
dynein axonemal assembly factor 8
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
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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
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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
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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
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LOC100361104
CG10869-like
ISO
ClinVar Annotator: match by term: Kohlschutter's syndrome
ClinVar
PMID:28492532
NCBI chr10:10,897,269...10,944,328
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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