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
Accession: DOID:9000363
browse the term
Definition: Presence of blood in the urine.
Synonyms: exact_synonym: Hematurias
narrow_synonym: MACROSCOPIC HEMATURIA
primary_id: MESH:D006417
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Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2187653
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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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
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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:16199547 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:19357112 More...
RGD:7242047
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar RGD
PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 PMID:28844315 PMID:33772369 PMID:19357112 More...
RGD:7242047
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar
PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 PMID:14604828 PMID:18083113 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:21505094 PMID:21848006 PMID:24046192 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:29144512 PMID:29526710 PMID:30311386 PMID:31027891 More...
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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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
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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
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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
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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
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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
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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
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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
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy
ClinVar RGD
PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:17216251 PMID:19525337 PMID:23325022 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:25229338 PMID:25307543 PMID:25575550 PMID:25741868 PMID:26809805 PMID:27627812 PMID:28492532 PMID:29098738 PMID:29854973 PMID:30476138 PMID:30661074 PMID:32647767 PMID:33532864 PMID:34400539 PMID:19357112 More...
RGD:7242047
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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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 basement membrane nephropathy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 PMID:12631110 PMID:14582039 PMID:16199547 PMID:16338941 PMID:17216251 PMID:17396119 PMID:17576681 PMID:21196518 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:28476686 PMID:28492532 PMID:28632965 PMID:28844315 PMID:29496980 PMID:29801666 PMID:29854973 PMID:30295827 PMID:30745910 PMID:30968591 PMID:31686460 PMID:31934206 PMID:32332277 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:34584596 PMID:19357112 More...
RGD:7242047
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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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
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Familial hematuria
ClinVar
PMID:28492532 PMID:29764427
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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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
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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
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Microscopic hematuria
ClinVar
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1
ClinVar
PMID:11134255 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:17216251 PMID:19525337 PMID:23325022 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:25229338 PMID:25307543 PMID:25741868 PMID:26809805 PMID:27627812 PMID:28492532 PMID:29098738 PMID:29854973 PMID:30476138 PMID:30661074 PMID:32647767 PMID:34400539 More...
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1
OMIM ClinVar
PMID:9792860 PMID:12325029 PMID:12631110 PMID:14582039 PMID:17396119 PMID:21196518 PMID:24033266 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 PMID:28476686 PMID:28492532 PMID:30968591 PMID:32332277 PMID:32703181 More...
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a3
collagen type IV alpha 3 chain
ISO
OMIM
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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