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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 lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
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Accession:DOID:0081396 term browser browse the term
Definition:A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. (DO)
Synonyms:exact_synonym: PHRINL;   PHRINL SYNDROME
 primary_id: OMIM:618810
 alt_id: DOID:9000870
 xref: ORDO:615983

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Path 1
Term Annotations click to browse term
  disease 14500
    syndrome 9538
      neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 0
Path 2
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14149
      nervous system disease 12370
        central nervous system disease 11088
          brain disease 10412
            cerebellar disease 1070
              pontocerebellar hypoplasia 31
                neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 0
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