Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Facial Asymmetry
go back to main search page
Accession:DOID:9008797 term browser browse the term
Definition:Congenital or acquired asymmetry of the face.
Synonyms:exact_synonym: Facial Asymmetries
 primary_id: MESH:D005146


show annotations for term's descendants           Sort by:
Facial Asymmetry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:25741868 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr11:96,256,547...96,259,082
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 ISO ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 OMIM
ClinVar		 PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr11:96,256,547...96,259,082
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
hypoinsulinemic hypoglycemia with hemihypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 thymoma viral proto-oncogene 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy		 OMIM
CTD
ClinVar		 PMID:15166380 PMID:16722806 PMID:21518566 PMID:21979934 PMID:25741868 More... NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Anatomical Pathological Conditions 2586
        Facial Asymmetry 8
          Facial Hemihypertrophy + 1
          Fronto-Facio-Nasal Dysplasia 0
          Hemifacial Hyperplasia with Strabismus 0
          Hemifacial Myohyperplasia 0
          Hereditary Congenital Facial Paresis + 1
          Mehes Syndrome 0
          Oculodentodigital Dysplasia, Autosomal Recessive 2
          Opitz Reynolds Fitzgerald syndrome 0
paths to the root