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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;   RDO:0003073
 alt_id: OMIM:249700
 xref: NCI:C126876
For additional species annotation, visit the Alliance of Genome Resources.



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Langer Mesomelic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC691272 similar to reproductive homeobox on X chromosome, 11 ISO ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Pathological Conditions, Signs and Symptoms 10291
      Pathologic Processes 6729
        Growth Disorders 783
          Langer Mesomelic Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Skin and Connective Tissue Diseases 5861
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              osteochondrodysplasia 479
                Langer Mesomelic Dysplasia 1
paths to the root