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: Malocclusion
Accession: DOID:9000121
browse the term
Definition: Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982)
Synonyms: exact_synonym: Angle Classification; Angle's Classification; Angles Classification; Cross Bite; Cross Bites; Crossbite; Crossbites; Crowdings, Tooth; Malocclusions; Tooth Crowding
primary_id: MESH:D008310
alt_id: MIM:154300
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Igf1
insulin-like growth factor 1
disease_progression
IEP
RGD
PMID:22758598
RGD:10045831
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
IEP
RGD
PMID:22758598
RGD:10045831
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igfbp3
insulin-like growth factor binding protein 3
IEP
RGD
PMID:22758598
RGD:10045831
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP
protein:increased expression:hippocampus (rat)
RGD
PMID:21751079
RGD:5686299
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Csnk2b
casein kinase 2 beta
ISO
ClinVar Annotator: match by term: Hapsburg jaw
ClinVar
PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Deaf1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Hapsburg jaw
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Dpyd
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Hapsburg jaw
ClinVar
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Erlec1
endoplasmic reticulum lectin 1
ISO
ClinVar Annotator: match by term: Hapsburg jaw
ClinVar
NCBI chr14:104,655,745...104,693,508
Ensembl chr14:104,655,673...104,693,480
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