Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


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 chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Zfhx4 zinc finger homeobox 4 ISS OMIM:178300 | OMIM:300245 MouseDO NCBI chr 2:98,423,565...98,610,368
Ensembl chr 2:98,423,569...98,610,368
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 OMIM
ClinVar
PMID:25741868 NCBI chr 2:98,423,565...98,610,368
Ensembl chr 2:98,423,569...98,610,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital ptosis 2
        Congenital Ptosis, Hereditary 1 1
        Congenital Ptosis, Hereditary 2 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            eyelid disease 92
              ptosis 22
                congenital ptosis 2
                  Congenital Ptosis, Hereditary 1 1
                  Congenital Ptosis, Hereditary 2 0
paths to the root