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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:craniofacial microsomia
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Accession:EFO:MONDO:0015397 term browser browse the term
Synonyms:exact_synonym: Expanded spectrum hemifacial microsomia;   Expanded spectrum of hemifacial microsomia;   Goldenhar disease;   Goldenhar syndrome;   Laterofacial microsomia;   OAV (oculoauriculovertebral) dysplasia;   OAV dysplasia;   OAV spectrum;   OAVS;   facio-auriculo-vertebral spectrum;   facioauriculovertebral dysplasia;   first and second branchial arch syndrome;   first arch syndrome;   first branchial arch syndrome;   oculo-auriculo-vertebral spectrum;   oculoauriculovertebral dysplasia;   oculoauriculovertebral syndrome;   otomandibular syndrome;   unilateral or bilateral and asymmetric otomandibular dysplasia
 related_synonym: Fav sequence;   HFM;   OAVD;   facioauriculovertebral sequence;   hemifacial microsomia;   oculo-auriculo-vertebral dysplasia;   oculoauriculovertebral spectrum
 alt_id: MONDO:0015397
 xref: DOID:2907;   GARD:12074;   ICD9:759.89;   MEDGEN:75554;   MESH:D006053;   MIM:PS164210;   NCI:C84740;   NORD:1518;   ORDO:141132;   ORDO:141136;   ORDO:374;   SCTID:109393007;   SCTID:367462009;   UMLS:C0265240
 see_also: https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum" xsd:anyURI {source="GARD:0012074


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craniofacial microsomia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
Q GWAS587029_H craniofacial microsomia QTL GWAS587029 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr 2:236,112,702...236,112,703 JBrowse link
Q GWAS587030_H craniofacial microsomia QTL GWAS587030 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr 3:78,503,082...78,503,083 JBrowse link
Q GWAS587031_H craniofacial microsomia QTL GWAS587031 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr10:8,407,928...8,407,929 JBrowse link
Q GWAS587116_H craniofacial microsomia QTL GWAS587116 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr11:69,846,566...69,846,567 JBrowse link
Q GWAS587119_H craniofacial microsomia QTL GWAS587119 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr15:74,573,099...74,573,100 JBrowse link
Q GWAS587184_H craniofacial microsomia QTL GWAS587184 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr 4:76,547,441...76,547,442 JBrowse link
Q GWAS587187_H craniofacial microsomia QTL GWAS587187 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr10:13,753,471...13,753,472 JBrowse link
Q GWAS587188_H craniofacial microsomia QTL GWAS587188 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr13:77,843,996...77,843,997 JBrowse link
Q GWAS587191_H craniofacial microsomia QTL GWAS587191 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr14:52,060,469...52,060,470 JBrowse link
Q GWAS587192_H craniofacial microsomia QTL GWAS587192 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr17:45,058,827...45,058,828 JBrowse link
Q GWAS587333_H craniofacial microsomia QTL GWAS587333 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr13:73,583,314...73,583,315 JBrowse link
Q GWAS587915_H craniofacial microsomia QTL GWAS587915 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr 2:46,282,518...46,282,519 JBrowse link
Q GWAS587917_H craniofacial microsomia QTL GWAS587917 (human) IAGP GWAS_CATALOG PMID:26853712 NCBI chr 2:205,570,985...205,570,986 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          syndromic disease 1514
            craniofacial microsomia 13
Path 2
Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          musculoskeletal system disease 11595
            skeletal system disease 10680
              bone disease 8326
                bone development disease 74
                  dysostosis 15
                    oculoauriculovertebral spectrum with radial defects 13
                      craniofacial microsomia 13
paths to the root