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
Accession: DOID:9008539
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
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Ednrb
endothelin receptor type B
ISO
RGD
PMID:8570650
RGD:628515
NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
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Fam20c
FAM20C golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065
NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
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Fancd2
FA complementation group D2
ISO
RGD
PMID:12893777
RGD:11344906
NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242822
NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365
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Lamc3
laminin subunit gamma 3
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25741868 PMID:28492532 PMID:33639934
NCBI chrNW_004936487:17,910,673...17,958,641
Ensembl chrNW_004936487:17,915,104...17,957,596
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Pomgnt2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284
NCBI chrNW_004936695:2,117,506...2,141,859
Ensembl chrNW_004936695:2,139,661...2,141,403
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Spdl1
spindle apparatus coiled-coil protein 1
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065
NCBI chrNW_004936688:840,345...841,808
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065 PMID:25741868 PMID:25741916 PMID:28556411
NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259
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Zfpm2
zinc finger protein, FOG family member 2
ISO
RGD
PMID:25196150
RGD:155882481
NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662
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