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: Denys-Drash syndrome
Accession: DOID:3764
browse the term
Definition: A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). (DO)
Synonyms: exact_synonym: DDS; Drash syndrome; Wilms tumor and pseudo- or true hermaphroditism; Wilms tumor and pseudohermaphroditism; nephropathy, Wilms tumor, and genital anomalies; pseudohermaphroditism, nephron disorder and Wilms' tumor
xref: GARD:5576 ; MESH:D030321 ; MIM:194080 ; MONDO:0008682 ; NCI:C84668
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ar
androgen receptor
ISO
protein:decreased expression:sertoli cell
RGD
PMID:16245160
RGD:1643343
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Dcdc1-ps1
doublecortin domain containing 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
G
Dnajc24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
G
Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
G
Immp1l
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
G
Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
G
Rcn1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
G
Wt1
WT1 transcription factor
ISO ISS
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM:194080 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8411073 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15349765 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16439601 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17551084 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18516627 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22815844 PMID:22876585 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25688735 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30221469 PMID:30406062 PMID:30655312 PMID:30668521 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32719394 PMID:32891756 PMID:33226606 PMID:34031707 PMID:34386660 PMID:34392242 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35535697 PMID:35904974 PMID:36349777 PMID:36980135 PMID:38054408 PMID:12161615 More...
RGD:1580624
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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