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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:diastrophic dysplasia
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Accession:EFO:MONDO:0009107 term browser browse the term
Definition:Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Synonyms:related_synonym: DD;   DTD;   diastrophic dwarfism;   diastrophic dysplasia, Broad bone-Platyspondylic variant
 alt_id: MONDO:0009107
 xref: DOID:14687;   GARD:6275;   ICD10CM:Q77.5;   ICD9:756.89;   MEDGEN:113103;   MESH:C536170;   MIM:222600;   NCI:C156311;   NORD:1051;   ORDO:628;   SCTID:58561002;   UMLS:C0220726;   icd11.foundation:1681550532


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            mineral metabolism disease 0
              diastrophic dysplasia 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
                bone development disease 0
                  osteochondrodysplasia 0
                    diastrophic dysplasia 0
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