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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 PMID:26648449 PMID:28125075 PMID:28166811 PMID:28492532 PMID:30827058 PMID:31780696 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  Deafness 285
                    Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
paths to the root