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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 Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326 		JBrowse link
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
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377 		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 19106
    physical disorder 5182
      congenital ptosis 4
        Congenital Ptosis, Hereditary 1 1
        Congenital Ptosis, Hereditary 2 0
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              eyelid disease 114
                ptosis 41
                  congenital ptosis 4
                    Congenital Ptosis, Hereditary 1 1
                    Congenital Ptosis, Hereditary 2 0
paths to the root