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RGD uses the Human Disease Ontology (DO, 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: Caudal Dysgenesis Syndrome;   Hypoplasia of sacrum;   Lumbosacral agenesis;   Sacral Defect and Anterior Sacral Meningocele;   Sacral Defect with Anterior Meningocele;   Sacral defect anterior meningocele;   agenesis of sacrum;   caudal dysplasia sequence;   caudal regression sequence
 narrow_synonym: SACRAL AGENESIS;   SDAM caudal dysgenesis syndrome;   sirenomelia
 primary_id: MESH:C537221
 alt_id: OMIM:600145
For additional species annotation, visit the Alliance of Genome Resources.

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 dysgenesis syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Sacral agenesis ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:16084090 PMID:16835904 PMID:16917943 PMID:19648156 PMID:19919814 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25558065 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by synonym: Caudal regression syndrome
ClinVar Annotator: match by term: Caudal dysgenesis syndrome
ClinVar Annotator: match by term: Sacral defect with anterior meningocele
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:52,980,226...53,146,765
Ensembl chr 8:52,985,313...53,146,953
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      caudal regression syndrome 6
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Urogenital Diseases 4199
        Female Urogenital Diseases and Pregnancy Complications 1945
          Female Urogenital Diseases 1649
            female reproductive system disease 1645
              prolapse of female genital organ 177
                enterocele 177
                  meningocele 7
                    caudal regression syndrome 6
paths to the root