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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:Facial Asymmetry
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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


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Facial Asymmetry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:25741868 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G ZIC3 Zic family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Hemifacial Myohyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP OMIM NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011 		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 IAGP ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 ClinVar
OMIM		 PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011 		JBrowse link
hypoinsulinemic hypoglycemia with hemihypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy OMIM
ClinVar		 PMID:15166380 PMID:16722806 PMID:17327441 PMID:21518566 PMID:21979934 More... NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		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 IAGP
EXP		 ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G TBC1D32 TBC1 domain family member 32 IAGP ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Pathological Conditions, Signs and Symptoms 53656
      Anatomical Pathological Conditions 4181
        Facial Asymmetry 8
          Facial Hemihypertrophy + 1
          Fronto-Facio-Nasal Dysplasia 0
          Hemifacial Hyperplasia with Strabismus 0
          Hemifacial Myohyperplasia 1
          Hereditary Congenital Facial Paresis + 1
          Mehes Syndrome 0
          Oculodentodigital Dysplasia, Autosomal Recessive 2
          Opitz Reynolds Fitzgerald syndrome 0
paths to the root