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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 ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | 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
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:17087626 PMID:19438932 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 18162
    disease of anatomical entity 17537
      musculoskeletal system disease 7230
        connective tissue disease 5013
          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 18162
    disease of anatomical entity 17537
      musculoskeletal system disease 7230
        connective tissue disease 5013
          bone disease 3683
            bone development disease 1873
              osteochondrodysplasia 614
                osteosclerosis 47
                  Osteopoikilosis 2
                    Buschke-Ollendorff syndrome 2
                    Isolated Osteopoikilosis 0
                    Melorheostosis with Osteopoikilosis 1
                    Osteopoikilosis and Dacryocystitis 0
paths to the root