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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
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EVEN-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      EVEN-PLUS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Congenital Microtia 18
                EVEN-PLUS SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.