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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:spondyloepimetaphyseal dysplasia, PAPSS2 type
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Accession:EFO:MONDO:0019666 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Synonyms:exact_synonym: brachyolmia 4 with mild epiphyseal and metaphyseal changes;   spondyloepimetaphyseal dysplasia Pakistani type
 related_synonym: BCYM4;   SEMD, Pakistani type;   brachyolmia type 4 with mild epiphyseal and metaphyseal changes;   spondylodysplasia and premature pubarche
 alt_id: MONDO:0019666
 xref: DOID:0050812;   GARD:16813;   MEDGEN:411234;   MIM:612847;   ORDO:93282;   SCTID:719172003;   UMLS:C2748515


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            mineral metabolism disease 0
              spondyloepimetaphyseal dysplasia, PAPSS2 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
                bone development disease 0
                  osteochondrodysplasia 0
                    spondyloepimetaphyseal dysplasia 0
                      spondyloepimetaphyseal dysplasia, PAPSS2 type 0
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