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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, PMID:21712857 NCBI chr  X:124,045,727...124,052,708
Ensembl chr  X:124,045,737...124,052,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Growth Disorders 321
          Langer Mesomelic Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Langer Mesomelic Dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.