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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:osteosclerotic metaphyseal dysplasia
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Accession:DOID:0081111 term browser browse the term
Definition:A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: OSMD
 primary_id: OMIM:615198
 alt_id: DOID:9000003
 xref: ORDO:500548
For additional species annotation, visit the Alliance of Genome Resources.



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osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar
PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:31571209 More... NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Neurodevelopmental Disorders 6186
        Developmental Disabilities 664
          osteosclerotic metaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                osteosclerosis 47
                  osteosclerotic metaphyseal dysplasia 1
paths to the root