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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 ptosis
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Accession:DOID:0060261 term browser browse the term
Definition:A ptosis characterized by eyelid drop present at birth. (DO)
Synonyms:xref: ICD10CM:Q10.0;   ICD9CM:743.61;   NCI:C27049



show annotations for term's descendants           Sort by:
congenital ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:32267004 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
JBrowse link
Congenital Ptosis, Hereditary 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx4 zinc finger homeobox 4 ISO ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 2:96,224,763...96,408,245
Ensembl chr 2:96,224,767...96,408,228
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    physical disorder 4940
      congenital ptosis 2
        Congenital Ptosis, Hereditary 1 1
        Congenital Ptosis, Hereditary 2 0
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            skin disease 3916
              eyelid disease 97
                ptosis 24
                  congenital ptosis 2
                    Congenital Ptosis, Hereditary 1 1
                    Congenital Ptosis, Hereditary 2 0
paths to the root