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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:BNAR syndrome
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Accession:EFO:MONDO:0012165 term browser browse the term
Definition:BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
Synonyms:related_synonym: BNAR;   bifid NOSE with or without anorectal and renal anomalies
 alt_id: MONDO:0012165
 xref: GARD:10595;   MEDGEN:413305;   MESH:C567672;   MIM:608980;   ORDO:217266;   SCTID:717940006;   UMLS:C2750433


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            BNAR syndrome 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
                skull disorder 0
                  disorder of facial skeleton 0
                    facial cleft 0
                      bifid nose 0
                        BNAR syndrome 0
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