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ONTOLOGY REPORT - ANNOTATIONS


Term:EVEN-PLUS SYNDROME
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Accession:DOID:9006624 term browser browse the term
Definition:A syndrome characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. (OMIM)
Synonyms:exact_synonym: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS;   EVPLS
 primary_id: OMIM:616854;   RDO:9001169
For additional species annotation, visit the Alliance of Genome Resources.


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EVEN-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:11554173
RGD:7240710

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Path 1
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  disease 14759
    syndrome 4210
      EVEN-PLUS SYNDROME 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          Otorhinolaryngologic Diseases 1035
            auditory system disease 660
              Congenital Microtia 18
                EVEN-PLUS SYNDROME 1
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