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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:Nuchal Bleb, Familial
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Accession:DOID:9003145 term browser browse the term
Synonyms:exact_synonym: Fetal cystic hygroma
 primary_id: MESH:C537852
 alt_id: MIM:257350;   RDO:0003764


show annotations for term's descendants           Sort by:
Nuchal Bleb, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      immune system disease 5034
        hemolytic disease of the fetus 67
          Hydrops Fetalis 60
            Nuchal Bleb, Familial 3
Path 2
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      Hemic and Lymphatic Diseases 4327
        hematopoietic system disease 3836
          anemia 865
            normocytic anemia 755
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  hemoglobinopathy 248
                    thalassemia 216
                      alpha thalassemia 77
                        Hydrops Fetalis 60
                          Nuchal Bleb, Familial 3
paths to the root