ONTOLOGY REPORT - ANNOTATIONS


Term:Meckel syndrome
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Accession:DOID:0050778 term browser browse the term
Definition:A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)
Synonyms:exact_synonym: Meckel-Gruber syndrome
 primary_id: RDO:9004920
 xref: GARD:3436;   OMIM:PS249000;   ORDO:564
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:13592920
RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:13592920
RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link 5 8,761,293 8,876,205 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Exoc3l2 exocyst complex component 3-like 2 JBrowse link 1 80,372,708 80,404,275 RGD:8554872
G Exoc4 exocyst complex component 4 JBrowse link 4 60,549,128 61,358,305 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:13592920
RGD:8554872
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:13592920
RGD:8554872
G Tmem91 transmembrane protein 91 JBrowse link 1 82,463,824 82,471,310 RGD:8554872
G Txndc15 thioredoxin domain containing 15 JBrowse link 17 9,429,171 9,441,628 RGD:8554872
Meckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:7240710
RGD:8554872
RGD:11535078
RGD:11535074
RGD:11535068
RGD:11535065
RGD:11063991
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
RGD:7240710
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11067331
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535945
RGD:11535082
RGD:11535080
RGD:11535078
RGD:11068761
RGD:11063991
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11070805
Meckel syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
Meckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Meckel syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif14 kinesin family member 14 JBrowse link 13 53,350,073 53,421,992 RGD:8554872
RGD:7240710
Meckel Syndrome, Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      ciliopathy 192
        Meckel syndrome 26
          Meckel Syndrome, Type 10 1
          Meckel Syndrome, Type 11 1
          Meckel Syndrome, Type 12 1
          Meckel Syndrome, Type 9 1
          Meckel syndrome 1 6
          Meckel syndrome 13 1
          Meckel syndrome 2 1
          Meckel syndrome 3 1
          Meckel syndrome 4 1
          Meckel syndrome 5 1
          Meckel syndrome 6 1
          Meckel syndrome 7 1
          Meckel syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            ciliopathy 192
              Meckel syndrome 26
                Meckel Syndrome, Type 10 1
                Meckel Syndrome, Type 11 1
                Meckel Syndrome, Type 12 1
                Meckel Syndrome, Type 9 1
                Meckel syndrome 1 6
                Meckel syndrome 13 1
                Meckel syndrome 2 1
                Meckel syndrome 3 1
                Meckel syndrome 4 1
                Meckel syndrome 5 1
                Meckel syndrome 6 1
                Meckel syndrome 7 1
                Meckel syndrome 8 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.