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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 NCBI chr 7:126,774,010...126,914,085
Ensembl chr 7:126,775,516...126,913,585
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 chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Vegfc vascular endothelial growth factor C ISS OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 MouseDO NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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, PMID:19289394, PMID:25741868 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
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 OMIM NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
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 OMIM:613480 OMIM
ClinVar
PMID:20537300, PMID:21266381 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
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 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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:28492532, PMID:30244526, PMID:31028252 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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:27400125, PMID:29905864 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
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 OMIM NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          hereditary lymphedema 7
            Hereditary Lymphedema III 1
            Lymphatic Malformation 7 1
            Lymphatic Malformation 8 1
            hereditary lymphedema I 1
            hereditary lymphedema IA 1
            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 16103
    disease of anatomical entity 15351
      Immune & Inflammatory Diseases 3508
        immune system disease 2928
          lymphatic system disease 1088
            lymphedema 25
              hereditary lymphedema 7
                Hereditary Lymphedema III 1
                Lymphatic Malformation 7 1
                Lymphatic Malformation 8 1
                hereditary lymphedema I 1
                hereditary lymphedema IA 1
                hereditary lymphedema IB 0
                hereditary lymphedema IC 1
                hereditary lymphedema ID 1
                hereditary lymphedema II 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.