Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Hematuria
go back to main search page
Accession:DOID:9000363 term browser browse the term
Definition:Presence of blood in the urine.
Synonyms:exact_synonym: Hematurias
 narrow_synonym: MACROSCOPIC HEMATURIA
 primary_id: MESH:D006417
 alt_id: RDO:0001362
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Hematuria ClinVar PMID:7894492, PMID:8531967, PMID:8644703, PMID:8833256, PMID:8841191, PMID:9042909, PMID:9150153, PMID:10053113, PMID:10090881, PMID:10447273, PMID:10788334, PMID:11466700, PMID:12142080, PMID:15024741, PMID:15133502, PMID:15353005, PMID:15951956, PMID:15994883, PMID:16541315, PMID:17307836, PMID:18694767, PMID:18762988, PMID:18940477, PMID:19208665, PMID:20301425, PMID:20345474, PMID:20507347, PMID:20569256, PMID:21119707, PMID:21324516, PMID:21503673, PMID:22006311, PMID:22032251, PMID:22185575, PMID:22430266, PMID:23199084, PMID:23232912, PMID:23469205, PMID:23867111, PMID:24033266, PMID:24884479, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26718727, PMID:27433846, PMID:28492532, PMID:29335925, PMID:29478780, PMID:29492181, PMID:30311386, PMID:30606148, PMID:31065452 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G C3 complement C3 ISO protein:increased expression:renal arteriole: RGD PMID:10955930 RGD:7183083 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Macroscopic hematuria
ClinVar Annotator: match by term: Hematuria
ClinVar PMID:25741868, PMID:30311386, PMID:19357112 RGD:7242047 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO RGD PMID:19357112 RGD:7242047 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Hematuria ClinVar PMID:9848783, PMID:11223851, PMID:17396119, PMID:19728970, PMID:19965530, PMID:20378821, PMID:21332469, PMID:24470729, PMID:25741868, PMID:26467025, PMID:26809805, PMID:26934356, PMID:28492532, PMID:28844315, PMID:29854973, PMID:30311386 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:17133240 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IDA
IEP
RGD PMID:22634839, PMID:22634839 RGD:7242178, RGD:7242178 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:30311386 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Hematuria ClinVar PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567, PMID:1324751 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hematuria ClinVar NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
benign familial hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by OMIM:141200
ClinVar
OMIM
PMID:11961012, PMID:25307543, PMID:25741868, PMID:19357112 RGD:7242047 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY
ClinVar
OMIM
PMID:8787673, PMID:9792860, PMID:11961012, PMID:12325029, PMID:14582039, PMID:16338941, PMID:17216251, PMID:24052634, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532, PMID:30311386, PMID:19357112 RGD:7242047 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
ClinVar Annotator: match by OMIM:120433
OMIM
ClinVar
PMID:4997531, PMID:24462371 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Hemorrhage 271
          Hematuria 20
            benign familial hematuria 4
            uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          Urination Disorders 543
            Hematuria 20
              benign familial hematuria 4
              uveal coloboma-cleft lip and palate-intellectual disability 1
paths to the root

NHLBI Logo

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