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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:cystic lymphangioma
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Accession:DOID:3081 term browser browse the term
Definition:A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin.
Synonyms:exact_synonym: Cystic Hygroma;   Cystic Hygroma Colli;   Cystic Hygromas;   Cystic Lymphangiomas;   Hygroma;   Hygromas
 primary_id: MESH:D018191
 xref: EFO:1000888;   GARD:6234;   MONDO:0009761;   NCI:C3724;   ORDO:79486
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cystic lymphangioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
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 4:46,561,269...46,728,759
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:25741905 PMID:25795793 PMID:28492532 PMID:30368668 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:21387466 PMID:22494877 More... NCBI chr 6:14,533,870...14,613,348
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 21128
    disease of cellular proliferation 7667
      Neoplasms by Histologic Type 5258
        Lymphatic Vessel Tumors 40
          lymphangioma 19
            cystic lymphangioma 4
              Abdominal Cystic Lymphangioma 0
              Nuchal Bleb, Familial 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      benign neoplasm 2228
        organ system benign neoplasm 1301
          cardiovascular organ benign neoplasm 131
            benign vascular tumor 19
              lymphangioma 19
                cystic lymphangioma 4
                  Abdominal Cystic Lymphangioma 0
                  Nuchal Bleb, Familial 3
paths to the root