Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Lymphatic Malformation 10
go back to main search page
Accession:DOID:9000037 term browser browse the term
Definition:An autosomal dominant disorder characterized by onset of lymphedema within the first year of life, primarily involving the lower extremities although it also may appear in the neck, upper extremities, and scrotum or labia majora. Caused by heterozygous mutation in the ANGPT2 gene on chromosome 8p23. (OMIM)
Synonyms:exact_synonym: LMPHM10
 primary_id: MIM:619369


show annotations for term's descendants           Sort by:
Lymphatic Malformation 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 OMIM
ClinVar		 PMID:25741868 PMID:32908006 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:25741868 PMID:32908006 NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15830
    Developmental Disease 13856
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12943
        genetic disease 12642
          hereditary lymphedema 15
            Lymphatic Malformation 10 2
Path 2
Term Annotations click to browse term
  disease 15830
    disease of anatomical entity 15487
      Immune & Inflammatory Diseases 5238
        immune system disease 4702
          lymphatic system disease 1676
            lymphedema 156
              hereditary lymphedema 15
                Lymphatic Malformation 10 2
paths to the root