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acrofrontofacionasal dysostosis 2 - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:acrofrontofacionasal dysostosis 2
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Accession:EFO:MONDO:0009402 term browser browse the term
Definition:A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Synonyms:exact_synonym: Naguib-Richieri-Costa syndrome;   Orphanet:2211;   acrofrontofacionasal dysostosis type 2;   acrofrontofacionasal syndrome type 2;   http://identifiers.org/medgen/383797;   http://identifiers.org/mesh/C538332;   http://identifiers.org/snomedct/721835008;   http://linkedlifedata.com/resource/umls/id/C1855904;   https://omim.org/entry/239710
 related_synonym: AFFN dysostosis 2;   Naguib syndrome;   acrofrontofacionasal dysostosis with genitourinary anomalies;   acrofrontofacionasal dysostosis, severe;   hypertelorism hypospadias polysyndactyly syndrome;   hypertelorism, hypospadias, and polysyndactyly syndrome
 alt_id: MONDO:0009402
 xref: GARD:287;   MEDGEN:383797;   MESH:C538332;   MIM:239710;   ORDO:2211;   SCTID:721835008;   UMLS:C1855904

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            acrofrontofacionasal dysostosis 2 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
                  dysostosis 0
                    acrofacial dysostosis 0
                      acrofrontofacionasal dysostosis 0
                        acrofrontofacionasal dysostosis 2 0
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