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
alt_id: RDO:0001362
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
PMID:24854265 PMID:25741868 PMID:28492532 , PMID:19357112
RGD:7242047
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar
PMID:24052634 PMID:26809805 PMID:28492532 , PMID:19357112
RGD:7242047
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Hematuria
ClinVar
PMID:8648925 PMID:9150741 PMID:12796257 PMID:14604828 PMID:18083113 PMID:19919694 PMID:20130921 PMID:20378821 PMID:21848006 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:29144512 PMID:29526710 PMID:30311386
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29027484
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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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
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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 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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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
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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
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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
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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
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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:28632965 , PMID:19357112
RGD:7242047
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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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:8648925 PMID:25741868 PMID:30311386
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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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
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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 PMID:25741868
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all