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autosomal dominant chondrodysplasia punctata - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal dominant chondrodysplasia punctata
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Accession:EFO:MONDO:0007321 term browser browse the term
Definition:Autosomal dominant form of chondrodysplasia punctata.
Synonyms:exact_synonym: DOID:0060293;   chondrodysplasia punctata Sheffield type;   http://identifiers.org/medgen/303176;   http://identifiers.org/mesh/C563248;   http://linkedlifedata.com/resource/umls/id/C1442935;   https://omim.org/entry/118650
 related_synonym: chondrodysplasia punctata due to vitamin K deficiency;   chondrodysplasia punctata due to warfarin teratogenicity
 alt_id: MONDO:0007321;   MONDO:0022728
 xref: DOID:0060293;   GARD:1298;   MEDGEN:303176;   MESH:C563248;   MIM:118650;   ORDO:79344;   UMLS:C1442935
 see_also: https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type" xsd:anyURI {source="GARD:0001298

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            autosomal dominant chondrodysplasia punctata 0
              chondrodysplasia punctata, brachytelephalangic, autosomal 0
              chondrodysplasia punctata, tibial-metacarpal type 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                skeletal dysplasia 0
                  chondrodysplasia punctata 0
                    non-rhizomelic chondrodysplasia punctata 0
                      autosomal dominant chondrodysplasia punctata 0
                        chondrodysplasia punctata, brachytelephalangic, autosomal 0
                        chondrodysplasia punctata, tibial-metacarpal type 0
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