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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;   RDO:0000982
For additional species annotation, visit the Alliance of Genome Resources.


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Facial Asymmetry 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 ISO ClinVar Annotator: match by term: Facial asymmetry ClinVar PMID:25741868 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO ClinVar Annotator: match by term: Hereditary congenital facial paresis 3
ClinVar Annotator: match by OMIM:614744
OMIM
ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:27144914 NCBI chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
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 ISO OMIM NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
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 ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18412120 PMID:18946008 PMID:19057520 PMID:19338053 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22699666 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Pathological Conditions, Signs and Symptoms 10222
      Anatomical Pathological Conditions 1995
        Facial Asymmetry 5
          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 1
          Opitz Reynolds Fitzgerald syndrome 0
paths to the root