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Weill-Marchesani syndrome 3 - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Weill-Marchesani syndrome 3
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Accession:EFO:MONDO:0013899 term browser browse the term
Definition:Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.
Synonyms:exact_synonym: LTBP2 Weill-Marchesani syndrome;   Weill-Marchesani syndrome 3, recessive;   Weill-Marchesani syndrome caused by mutation in LTBP2;   Weill-Marchesani syndrome type 3;   http://identifiers.org/medgen/766699;   http://linkedlifedata.com/resource/umls/id/C3553785;   https://omim.org/entry/614819
 related_synonym: WMS3
 alt_id: MONDO:0013899
 xref: GARD:15844;   MEDGEN:766699;   MIM:614819;   UMLS:C3553785

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Weill-Marchesani syndrome 0
              Weill-Marchesani syndrome 3 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                skeletal dysplasia 0
                  acromelic dysplasia 0
                    Weill-Marchesani syndrome 0
                      Weill-Marchesani syndrome 3 0
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