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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:Beemer-Langer syndrome
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Accession:DOID:9249 term browser browse the term
Definition:A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. (DO)
Synonyms:exact_synonym: SRPS IV;   SRPS, type 4;   SRTD12;   short rib syndrome, Beemer type;   short rib-polydactyly syndrome, Beemer type;   short rib-polydactyly syndrome, type 4;   short rib-polydactyly syndrome, type IV;   short-rib thoracic dysplasia 12
 primary_id: MESH:C537599
 alt_id: OMIM:269860


show annotations for term's descendants           Sort by:
Beemer-Langer syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 More... NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Beemer-Langer syndrome 6
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                asphyxiating thoracic dystrophy 229
                  Beemer-Langer syndrome 6
paths to the root