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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:25583476 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        Neurologic Manifestations 9982
          sensory system disease 6883
            Otorhinolaryngologic Diseases 1699
              auditory system disease 955
                Hearing Disorders 785
                  Hearing Loss 781
                    Deafness 349
                      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
paths to the root