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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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neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal OMIM
ClinVar		 PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
paths to the root