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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:Osteopoikilosis
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Accession:DOID:11991 term browser browse the term
Definition:An osteosclerosis that results_in numerous bone islands located_in skeleton. (DO)
Synonyms:exact_synonym: osteopoikiloses
 primary_id: MESH:D010023
 xref: GARD:4158;   ICD10CM:Q78.8;   ICD9CM:756.53;   NCI:C84985
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Osteopoikilosis ClinVar PMID:15489854 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)		 OMIM
CTD
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis ClinVar PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      musculoskeletal system disease 8466
        connective tissue disease 5940
          Osteopoikilosis 2
            Buschke-Ollendorff syndrome 2
            Isolated Osteopoikilosis 0
            Melorheostosis with Osteopoikilosis 1
            Osteopoikilosis and Dacryocystitis 0
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      Skin and Connective Tissue Diseases 7682
        connective tissue disease 5940
          bone disease 4394
            bone development disease 2367
              osteochondrodysplasia 867
                osteosclerosis 59
                  Osteopoikilosis 2
                    Buschke-Ollendorff syndrome 2
                    Isolated Osteopoikilosis 0
                    Melorheostosis with Osteopoikilosis 1
                    Osteopoikilosis and Dacryocystitis 0
paths to the root