Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
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: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome OMIM
ClinVar
PMID:25741868 PMID:26598328 PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      EVEN-PLUS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            Otorhinolaryngologic Diseases 1678
              auditory system disease 1081
                Congenital Microtia 19
                  EVEN-PLUS SYNDROME 1
paths to the root