Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Osteopoikilosis
go back to main search page
Accession:DOID:11991 term browser browse the term
Definition:An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)
Synonyms:exact_synonym: Osteopoikiloses
 primary_id: MESH:D010023;   RDO:0001479
 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 null ClinVar PMID:15489854 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
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 chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Osteopoikilosis with melorheostosis
ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated
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)
ClinVar Annotator: match by OMIM:166700
OMIM
ClinVar
PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:19438932 PMID:25741868 PMID:28434888 PMID:28492532, PMID:20678097, PMID:21985280, PMID:20083694, PMID:19438932 RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
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: Osteopoikilosis with melorheostosis ClinVar PMID:9295073 PMID:12749062 PMID:15489854 PMID:17087626 PMID:19438932 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          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 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              osteochondrodysplasia 446
                osteosclerosis 44
                  Osteopoikilosis 2
                    Buschke-Ollendorff syndrome 2
                    Isolated Osteopoikilosis 0
                    Melorheostosis with Osteopoikilosis 1
                    Osteopoikilosis and Dacryocystitis 0
paths to the root