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)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal lymphatic vessel morphology
go back to main search page
Accession:HP:0100766 term browser browse the term
Definition:A structural anomaly of the vessel that contains or conveys lymph fluid.
Synonyms:exact_synonym: Abnormality of the lymphatic vessels
 xref: UMLS:C4021974


show annotations for term's descendants           Sort by:
Abnormal lymphatic vessel morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule IAGP associated with breast cancer, DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) RGD PMID:21912605 RGD:8547780 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CLU clusterin IAGP associated with breast cancer, DNA:snp:promoter:g.27611345C>G (rs9331888) RGD PMID:22037783 RGD:8963167 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G COMT catechol-O-methyltransferase IAGP associated with breast cancer, DNA:missense mutation:cds:p.V108/158M RGD PMID:10755383 RGD:8662330 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP associated with breast cancer, DNA:snp:intron:c.109+7033T>A (rs1219648) RGD PMID:20640597 RGD:7394846 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP associated with breast cancer, DNA:deletion:promoter:-1170_-1172delA RGD PMID:15161710 RGD:8662937 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:140944 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
Hypoplasia of lymphatic vessels term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 IAGP HPO MIM:153100 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
Intestinal lymphangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:616006 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO MIM:616843 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G RNF31 ring finger protein 31 IAGP HPO MIM:620632 NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660 		JBrowse link
Lymphangiectasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G MPI mannose phosphate isomerase IAGP HPO MIM:602579 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
Pericardial lymphangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:616006 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
Pleural lymphangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
Pulmonary lymphangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:616006 ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO MIM:137940 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
Pulmonary lymphangiomyomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G LOC130058210 ATAC-STARR-seq lymphoblastoid silent region 7024 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar PMID:25741868 NCBI chr16:2,048,019...2,048,248 JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar
HPO		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... MIM:191100 MIM:606690 ORPHA:538 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar
HPO		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... MIM:606690 MIM:613254 ORPHA:538 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Thyroid lymphangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
Tortuous lymphatic vessels 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 IAGP HPO MIM:619319 NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the immune system 5743
        Abnormality of the lymphatic system 1005
          Abnormal lymphatic vessel morphology 25
            Abnormal thoracic duct morphology 0
            Aplasia of lymphatic vessels 0
            Hypoplasia of lymphatic vessels 1
            Lymphangiectasis + 10
            Lymphatic vessel neoplasm + 6
            Tortuous lymphatic vessels 1
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the cardiovascular system 5823
        Abnormality of the vasculature 3404
          Abnormal vascular morphology 2200
            Abnormal lymphatic vessel morphology 25
              Abnormal thoracic duct morphology 0
              Aplasia of lymphatic vessels 0
              Hypoplasia of lymphatic vessels 1
              Lymphangiectasis + 10
              Lymphatic vessel neoplasm + 6
              Tortuous lymphatic vessels 1
paths to the root