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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0002018
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Neonatal Progeroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872

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Path 1
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  disease 15609
    syndrome 5791
      progeria 16
        Neonatal Progeroid Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      Urogenital Diseases 4002
        Female Urogenital Diseases and Pregnancy Complications 1778
          Pregnancy Complications 524
            Fetal Diseases 225
              Fetal Growth Retardation 165
                Neonatal Progeroid Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.