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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:Neonatal Progeroid Syndrome
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Accession:DOID:9008367 term browser browse the term
Definition:Neonatal Progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment. Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported. WDRTS is caused by compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (OMIM)
Synonyms:exact_synonym: WDRTS;   Wiedemann-Rautenstrauch syndrome;   neonatal pseudo-hydrocephalic progeroid syndrome
 primary_id: MESH:C536423
 alt_id: OMIM:264090
For additional species annotation, visit the Alliance of Genome Resources.


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Neonatal Progeroid Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome
OMIM
ClinVar
PMID:12605447, PMID:16007586, PMID:19938095, PMID:21855841, PMID:25741868, PMID:25898808, PMID:27612211, PMID:28459997, PMID:28492532, PMID:30323018, PMID:30414627, PMID:30450527, PMID:30847471, PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      progeria 17
        Neonatal Progeroid Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Pregnancy Complications 571
            Fetal Diseases 237
              Fetal Growth Retardation 172
                Neonatal Progeroid Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.