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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:Multicystic Dysplastic Kidney
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Accession:DOID:9005988 term browser browse the term
Definition:A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Synonyms:exact_synonym: Bilateral Multicystic Dysplastic Kidneys;   Multicystic Dysplastic Kidneys;   Multicystic Kidney;   Multicystic Kidney Dysplasia;   Multicystic Kidney Dysplasias;   Multicystic Kidneys;   Multicystic Renal Dysplasia;   Multicystic Renal Dysplasias;   Unilateral Multicystic Dysplastic Kidney
 xref: MESH:D021782;   MONDO:0015988


show annotations for term's descendants           Sort by:
Multicystic Dysplastic Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA, protein:increased expression:kidney RGD PMID:9200407 RGD:2298582 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar PMID:25741868 PMID:26467025 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Tbx18 T-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        Urogenital Abnormalities 461
          Multicystic Dysplastic Kidney 8
            CAKUT2 4
            Campomelia Cumming Type 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            cystic kidney disease 523
              Multicystic Dysplastic Kidney 8
                CAKUT2 4
                Campomelia Cumming Type 0
paths to the root