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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
 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 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: 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 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 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
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:28632965, 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 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 		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 PMID:25741868 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 16918
    Pathological Conditions, Signs and Symptoms 9887
      Pathologic Processes 6539
        Hemorrhage 259
          Hematuria 16
            benign familial hematuria 4
            uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Urogenital Diseases 4203
        urinary system disease 2107
          Urination Disorders 573
            Hematuria 16
              benign familial hematuria 4
              uveal coloboma-cleft lip and palate-intellectual disability 1
paths to the root