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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:Hematuria
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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


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 6:136,997,832...137,017,417
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G C3 complement C3 ISO protein:increased expression:renal arteriole: RGD PMID:10955930 RGD:7183083 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria ClinVar
RGD		 PMID:8956999 PMID:12028435 PMID:16199547 PMID:24052634 PMID:24854265 More... RGD:7242047 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Hematuria ClinVar
RGD		 PMID:12028435 PMID:16467446 PMID:17942953 PMID:24046192 PMID:24052634 More... RGD:7242047 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain onset IMP
ISO 		ClinVar Annotator: match by term: Hematuria ClinVar
RGD		 PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 More... RGD:329845598 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a5em1Matsu collagen type IV alpha 5 chain; CRISPR/Cas9 induced mutant 1, Matsu onset IMP RGD PMID:34675305 RGD:329845598
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29027484 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:17133240 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		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 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:25741868 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567 PMID:1324751 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Upk2 uroplakin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424769 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		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 term: Microscopic hematuria ClinVar
RGD		 PMID:2557550 PMID:9536098 PMID:11134255 PMID:11961012 PMID:12028435 More... RGD:7242047 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: THIN MEMBRANE NEPHROPATHY
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8787673 PMID:9536098 PMID:9792860 PMID:11685592 PMID:12028435 More... RGD:7242047 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar PMID:25741868 PMID:28492532 PMID:29764427 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:9108089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Benign Familial Hematuria 1 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: Hematuria, benign familial, 1 ClinVar PMID:25741868 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: COL4A4-related condition
ClinVar Annotator: match by term: Hematuria, benign familial, 1 		OMIM
ClinVar		 PMID:8787673 PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
Benign Familial Hematuria 2 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: Hematuria, benign familial, 2 OMIM
ClinVar		 PMID:2557550 PMID:8083201 PMID:8956999 PMID:9536098 PMID:11134255 More... NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Pathologic Processes 8331
        Hemorrhage 310
          Hematuria 21
            benign familial hematuria + 7
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Urogenital Diseases 5402
        urinary system disease 2835
          Urination Disorders 637
            Hematuria 21
              benign familial hematuria + 7
paths to the root