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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:Congenital Mydriasis
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Accession:DOID:9002120 term browser browse the term
Synonyms:narrow_synonym: BILATERAL CONGENITAL MYDRIASIS
 primary_id: MESH:C563221
 alt_id: MIM:159420
 xref: HP:0007932



show annotations for term's descendants           Sort by:
Congenital Mydriasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Bilateral congenital mydriasis ClinVar PMID:25741868 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME OMIM
ClinVar
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar PMID:25741868 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          Congenital Mydriasis 3
            Multisystemic Smooth Muscle Dysfunction Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              pupil disease 27
                Mydriasis 3
                  Congenital Mydriasis 3
                    Multisystemic Smooth Muscle Dysfunction Syndrome 2
paths to the root