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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;   OMIM:PS153100
For additional species annotation, visit the Alliance of Genome Resources.



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 Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Hereditary lymphedema ClinVar PMID:25741868 PMID:31215153 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISS OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr10:33,913,725...33,954,770
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 chr16:37,712,408...37,827,657
Ensembl chr16:37,712,262...37,827,848
JBrowse link
hereditary lymphedema I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Lymphedema, hereditary, i
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar PMID:9817924 PMID:10835628 PMID:10856194 PMID:16924388 PMID:16965327 More... NCBI chr10:33,913,725...33,954,770
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 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:16924388 PMID:16965327 More... NCBI chr10:33,913,725...33,954,770
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 chr20:35,756,007...35,768,481
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
ClinVar Annotator: match by OMIM:613480
OMIM
ClinVar
PMID:20537300 PMID:21266381 PMID:28492532 NCBI chr10:43,962,642...43,971,358
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
ClinVar Annotator: match by term: Lymphedema, hereditary, id
OMIM
ClinVar
PMID:23410910 PMID:24744435 NCBI chr16:37,712,408...37,827,657
Ensembl chr16:37,712,262...37,827,848
JBrowse link
Hereditary Lymphedema III 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: GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU
ClinVar Annotator: match by term: Lymphedema, hereditary, III
ClinVar
OMIM
PMID:25741868 PMID:25741889 PMID:28492532 PMID:30244526 PMID:31028252 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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:32908006 NCBI chr16:71,088,364...71,138,805
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:32908006 NCBI chr16:71,021,855...71,224,067
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 7 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: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:25741868 PMID:27400125 PMID:29905864 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to ClinVar PMID:25741868 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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 3:69,428,348...69,525,910
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: LYMPHATIC MALFORMATION 9 OMIM
ClinVar
PMID:25741868 PMID:26855770 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 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          hereditary lymphedema 12
            Hereditary Lymphedema III 1
            Lymphatic Malformation 10 2
            Lymphatic Malformation 11 1
            Lymphatic Malformation 7 2
            Lymphatic Malformation 8 1
            Lymphatic Malformation 9 1
            hereditary lymphedema I 1
            hereditary lymphedema IA 2
            hereditary lymphedema IB 0
            hereditary lymphedema IC 1
            hereditary lymphedema ID 1
            hereditary lymphedema II 0
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Immune & Inflammatory Diseases 4020
        immune system disease 3381
          lymphatic system disease 1326
            lymphedema 146
              hereditary lymphedema 12
                Hereditary Lymphedema III 1
                Lymphatic Malformation 10 2
                Lymphatic Malformation 11 1
                Lymphatic Malformation 7 2
                Lymphatic Malformation 8 1
                Lymphatic Malformation 9 1
                hereditary lymphedema I 1
                hereditary lymphedema IA 2
                hereditary lymphedema IB 0
                hereditary lymphedema IC 1
                hereditary lymphedema ID 1
                hereditary lymphedema II 0
paths to the root