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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:atelosteogenesis type II
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Accession:EFO:MONDO:0009727 term browser browse the term
Definition:A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Synonyms:exact_synonym: AO2;   AOII;   neonatal osseous dysplasia type 1
 related_synonym: De 50A Chapelle dysplasia;   De la Chapelle dysplasia;   atelosteogenesis II;   atelosteogenesis, type 2;   neonatal osseous dysplasia 1
 alt_id: MONDO:0009727
 xref: GARD:8329;   ICD10CM:Q77.5;   ICD9:756.9;   MEDGEN:338072;   MESH:C535395;   MIM:256050;   ORDO:56304;   SCTID:254055004;   UMLS:C1850554


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            mineral metabolism disease 0
              atelosteogenesis type II 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
                    atelosteogenesis 0
                      atelosteogenesis type II 0
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