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:Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
go back to main search page
Accession:DOID:9003949 term browser browse the term
Synonyms:exact_synonym: MDPL
 primary_id: OMIM:615381;   RDO:9000925
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar
PMID:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          Otorhinolaryngologic Diseases 1367
            auditory system disease 917
              Hearing Disorders 744
                Hearing Loss 740
                  Deafness 387
                    Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
paths to the root