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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-Polydactyly Syndrome, Type IV;   Short rib-polydactyly syndrome, type 4;   short rib syndrome, Beemer type;   short rib-polydactyly syndrome, Beemer type;   short-rib thoracic dysplasia 12
 primary_id: MESH:C537599
 alt_id: OMIM:269860;   RDO:0003470
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Beemer-Langer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872

Term paths to the root
Path 1
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  disease 15639
    syndrome 5218
      Beemer-Langer syndrome 6
Path 2
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  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              osteochondrodysplasia 410
                asphyxiating thoracic dystrophy 40
                  Beemer-Langer syndrome 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.