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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:Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
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Accession:DOID:9003949 term browser browse the term
Synonyms:exact_synonym: MDPL
 primary_id: OMIM:615381;   RDO:9000925


show annotations for term's descendants           Sort by:
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 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 18969
    syndrome 10886
      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            Otorhinolaryngologic Diseases 1739
              auditory system disease 993
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 374
                      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
paths to the root