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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: EVEN-PLUS SYNDROME
ClinVar Annotator: match by term: Even-plus syndrome
ClinVar
OMIM
PMID:26598328, PMID:30311386 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      EVEN-PLUS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          Otorhinolaryngologic Diseases 1185
            auditory system disease 754
              Congenital Microtia 14
                EVEN-PLUS SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.