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ONTOLOGY REPORT - ANNOTATIONS


Term:Encephalocele
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Accession:DOID:9000983 term browser browse the term
Definition:Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Synonyms:exact_synonym: Acquired Encephalocele;   Acquired Encephaloceles;   Bifid Cranium;   Bifid Craniums;   Cephalocele;   Cephaloceles;   Cerebellar Hernia;   Cerebellar Hernias;   Cerebellar Herniation;   Cerebellar Herniations;   Cerebral Hernia;   Cerebral Hernias;   Cranial Meningoencephalocele;   Cranial Meningoencephaloceles;   Craniocele;   Cranioceles;   Cranium Bifidum;   Cranium Bifidums;   Encephaloceles;   Frontal Encephalocele;   Frontal Encephaloceles;   Notoencephalocele;   Notoencephaloceles;   Occipital Encephalocele;   Occipital Encephaloceles;   Sincipital Encephalocele;   Sincipital Encephaloceles;   Tonsillar Hernia;   Tonsillar Hernias;   Tonsillar Herniation;   Tonsillar Herniations
 primary_id: MESH:D004677;   RDO:0001577
For additional species annotation, visit the Alliance of Genome Resources.


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Encephalocele 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 Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Wdr63 WD repeat domain 63 JBrowse link 2 251,912,432 251,970,699 RGD:8554872
Knobloch Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:7240710
RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 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, 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
parietal foramina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:8554872
RGD:13592920
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:8554872
RGD:11554173
Parietal Foramina 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:8554872
RGD:7240710
Parietal Foramina 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    physical disorder 737
      neural tube defect 102
        Encephalocele 15
          Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
          Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
          DK Phocomelia Syndrome 0
          Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 0
          Fronto-Facio-Nasal Dysplasia 0
          Knobloch Syndrome 3
          Knobloch Syndrome Type II 0
          Knobloch Syndrome Type III 0
          Laryngeal Atresia, Encephalocele, and Limb Deformities 0
          Meckel Syndrome, Type 12 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-Like Cerebrorenodigital Syndrome 0
          Podder-Tolmie Syndrome 0
          Sakoda Complex 0
          Zechi-Ceide Syndrome 0
          parietal foramina + 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Urogenital Diseases 3950
        Female Urogenital Diseases and Pregnancy Complications 1713
          Female Urogenital Diseases 1457
            female reproductive system disease 1453
              prolapse of female genital organ 150
                enterocele 150
                  Encephalocele 15
                    Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
                    Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
                    DK Phocomelia Syndrome 0
                    Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 0
                    Fronto-Facio-Nasal Dysplasia 0
                    Knobloch Syndrome 3
                    Knobloch Syndrome Type II 0
                    Knobloch Syndrome Type III 0
                    Laryngeal Atresia, Encephalocele, and Limb Deformities 0
                    Meckel Syndrome, Type 12 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-Like Cerebrorenodigital Syndrome 0
                    Podder-Tolmie Syndrome 0
                    Sakoda Complex 0
                    Zechi-Ceide Syndrome 0
                    parietal foramina + 2
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.