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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:Perinatal Death
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Accession:DOID:9008539 term browser browse the term
Definition:The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age.
Synonyms:exact_synonym: Neonatal Death;   Neonatal Deaths;   Perinatal Deaths
 primary_id: MESH:D066087;   RDO:0015988
For additional species annotation, visit the Alliance of Genome Resources.


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Perinatal Death term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,466
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,396...80,106,258
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,227
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:22958903, PMID:25558065 NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr16:54,276,943...54,303,465
Ensembl chr16:54,254,227...54,303,544
JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065, PMID:25741868, PMID:28556411 NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,002...47,933,780
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12615
    Pathological Conditions, Signs and Symptoms 7525
      Pathologic Processes 5562
        Death 129
          Perinatal Death 8
Path 2
Term Annotations click to browse term
  disease 12615
    disease of anatomical entity 12148
      Urogenital Diseases 3638
        Female Urogenital Diseases and Pregnancy Complications 1808
          Pregnancy Complications 543
            Perinatal Death 8
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.