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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:caudal regression syndrome
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Accession:DOID:0080700 term browser browse the term
Definition:A physical disorder that is characterized by impairment of the development of the lower half of the body. (DO)
Synonyms:exact_synonym: Hypoplasia of sacrum;   Lumbosacral agenesis;   Sacral Defect and Anterior Sacral Meningocele;   Sacral defect anterior meningocele;   agenesis of sacrum;   caudal dysgenesis syndrome;   caudal dysplasia sequence;   caudal regression sequence;   sacral defect with anterior meningocele
 narrow_synonym: SACRAL AGENESIS;   SDAM caudal dysgenesis syndrome;   sirenomelia
 primary_id: MESH:C537221
 alt_id: MIM:600145


show annotations for term's descendants           Sort by:
caudal regression syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      caudal regression syndrome 6
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Urogenital Diseases 5275
        Female Urogenital Diseases and Pregnancy Complications 2504
          Female Urogenital Diseases 2032
            female reproductive system disease 2029
              prolapse of female genital organ 191
                enterocele 191
                  meningocele 7
                    caudal regression syndrome 6
paths to the root