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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:Prognathism
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Accession:DOID:9003576 term browser browse the term
Definition:A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)
Synonyms:exact_synonym: prognathisms
 primary_id: MESH:D011378
For additional species annotation, visit the Alliance of Genome Resources.


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Prognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain susceptibility ISO DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Prognathism ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 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:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 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:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 ISO ClinVar Annotator: match by term: Prognathism ClinVar NCBI chr 3:87,362,166...87,389,814
Ensembl chr 3:87,355,904...87,389,814
JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNX3 sorting nexin 3 ISO OMIM NCBI chr 1:74,306,450...74,349,735
Ensembl chr 1:74,306,453...74,349,335
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13608
    Stomatognathic Diseases 918
      Jaw Diseases 285
        Jaw Abnormalities 217
          Prognathism 4
            Jorgenson Lenz Syndrome 0
            MOMES Syndrome 0
            syndromic microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 13608
    Developmental Disease 10244
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8831
        Congenital Abnormalities 5359
          Musculoskeletal Abnormalities 2182
            Craniofacial Abnormalities 1918
              Maxillofacial Abnormalities 228
                Jaw Abnormalities 217
                  Prognathism 4
                    Jorgenson Lenz Syndrome 0
                    MOMES Syndrome 0
                    syndromic microphthalmia 8 1
paths to the root