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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:Langer Mesomelic Dysplasia
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Accession:DOID:9005842 term browser browse the term
Synonyms:exact_synonym: Dyschondrosteosis Homozygous;   LANGER MESOMELIC DYSPLASIA SYNDROME;   LMD;   Langer Mesomelic Dwarfism;   Langer mesomelic dyspalsia;   Langer type of mesomelic dwarfism;   Mesomelic dwarfism Langer type;   Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type
 primary_id: MESH:C537267
 alt_id: OMIM:249700
 xref: NCI:C126876


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Langer Mesomelic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shox1 SHOX homeobox 1 ISO ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9590292 PMID:9590293 PMID:11889214 PMID:12116254 PMID:17935511 More... NCBI chr  X:116,688,163...116,695,111
Ensembl chr  X:116,688,163...116,695,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Pathologic Processes 7990
        Growth Disorders 1012
          Langer Mesomelic Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                Langer Mesomelic Dysplasia 1
paths to the root