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Weill-Marchesani syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Weill-Marchesani syndrome
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Accession:EFO:MONDO:0018096 term browser browse the term
Definition:Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Synonyms:exact_synonym: DOID:0050475;   NCIT:C85226;   Orphanet:3449;   congenital mesodermal dystrophy;   http://identifiers.org/medgen/82705;   http://identifiers.org/mesh/D056846;   http://identifiers.org/snomedct/2884008;   http://linkedlifedata.com/resource/umls/id/C0265313;   https://omim.org/phenotypicSeries/PS277600;   spherophakia brachymorphia syndrome
 synonym: http://identifiers.org/meddra/10064963
 related_synonym: WM syndrome;   WMS;   mesodermal dysmorphodystrophy congenital
 alt_id: MONDO:0018096
 xref: DOID:0050475;   GARD:4936;   ICD9:759.89;   MEDGEN:82705;   MESH:D056846;   MIM:PS277600;   MedDRA:10064963;   NCI:C85226;   NORD:1842;   ORDO:3449;   SCTID:2884008;   UMLS:C0265313

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Weill-Marchesani syndrome 0
              Weill-Marchesani 4 syndrome, recessive 0
              Weill-Marchesani syndrome 2, dominant 0
              Weill-Marchesani syndrome 3 0
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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 4 syndrome, recessive 0
                      Weill-Marchesani syndrome 2, dominant 0
                      Weill-Marchesani syndrome 3 0
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