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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:hereditary lymphedema
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Accession:DOID:0050580 term browser browse the term
Definition:A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO)
Synonyms:exact_synonym: PCL;   congenital familial lymphedema;   congenital hereditary lymphedema;   congenital hereditary lymphedemas;   hereditary lymphedemas;   primary congenital lymphedema;   primary congenital lymphedemas
 narrow_synonym: congenital recessive lymphedema
 alt_id: MESH:C565432
 xref: GARD:7220;   ICD9CM:757.0;   MIM:PS153100


show annotations for term's descendants           Sort by:
hereditary lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISS
ISO		 OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907
ClinVar Annotator: match by term: Primary congenital lymphedema		 MouseDO
ClinVar		 PMID:10835628 PMID:16965327 PMID:25741868 NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Vegfc vascular endothelial growth factor C ISS OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar
OMIM		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:25,005,741...25,022,628
Ensembl chr12:19,369,004...19,385,877 		JBrowse link
hereditary lymphedema I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
hereditary lymphedema IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I ClinVar PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I OMIM
ClinVar		 PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 More... NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Edema of the dorsum of feet ClinVar PMID:25741868 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
hereditary lymphedema IC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, IC OMIM
ClinVar		 PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 PMID:29451896 More... NCBI chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
hereditary lymphedema ID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfc vascular endothelial growth factor C ISO ClinVar Annotator: match by term: Lymphedema, hereditary, ID OMIM
ClinVar		 PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673 NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
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 chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 10 ClinVar PMID:25741868 PMID:32908006 NCBI chr16:77,724,251...77,926,773
Ensembl chr16:71,024,588...71,224,122 		JBrowse link
Lymphatic Malformation 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 11 OMIM
ClinVar		 PMID:32947856 NCBI chr 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 ClinVar
OMIM		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
Lymphatic Malformation 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chr11:48,148,149...48,370,472
Ensembl chr11:34,678,618...34,845,871 		JBrowse link
lymphatic malformation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition OMIM
ClinVar		 PMID:7090030 PMID:9536098 PMID:11001917 PMID:17576681 PMID:21944700 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, III ClinVar PMID:25741868 NCBI chr13:79,983,935...80,016,219
Ensembl chr13:77,450,849...77,504,163 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:89,835,071...89,932,616
Ensembl chr 3:69,430,120...69,525,910 		JBrowse link
Lymphatic Malformation 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9 OMIM
ClinVar		 PMID:25741868 PMID:26855770 PMID:28492532 PMID:31215153 PMID:31403174 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          hereditary lymphedema 16
            Lymphatic Malformation 10 2
            Lymphatic Malformation 11 1
            Lymphatic Malformation 12 1
            Lymphatic Malformation 13 1
            Lymphatic Malformation 14 1
            Lymphatic Malformation 8 1
            Lymphatic Malformation 9 1
            central conducting lymphatic anomaly 3
            hereditary lymphedema I 2
            hereditary lymphedema IA 3
            hereditary lymphedema IB 0
            hereditary lymphedema IC 1
            hereditary lymphedema ID 1
            hereditary lymphedema II 0
            lymphatic malformation 6 2
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Immune & Inflammatory Diseases 5752
        immune system disease 5031
          lymphatic system disease 1735
            lymphedema 151
              hereditary lymphedema 16
                Lymphatic Malformation 10 2
                Lymphatic Malformation 11 1
                Lymphatic Malformation 12 1
                Lymphatic Malformation 13 1
                Lymphatic Malformation 14 1
                Lymphatic Malformation 8 1
                Lymphatic Malformation 9 1
                central conducting lymphatic anomaly 3
                hereditary lymphedema I 2
                hereditary lymphedema IA 3
                hereditary lymphedema IB 0
                hereditary lymphedema IC 1
                hereditary lymphedema ID 1
                hereditary lymphedema II 0
                lymphatic malformation 6 2
paths to the root