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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: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


show annotations for term's descendants           Sort by:
Encephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349 NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 3:145,746,281...145,813,855
Ensembl chr 3:145,746,281...145,813,885 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Cephalocele ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349 NCBI chr 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470 		JBrowse link
Knobloch Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr 8:114,423,755...114,575,975
Ensembl chr 8:114,423,758...114,575,370 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Knobloch syndrome		 CTD
ClinVar		 PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
Knobloch Syndrome Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar		 PMID:25741868 NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160 		JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO
IAGP		 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome		 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:68,964,252...68,964,388
Ensembl chr11:68,964,253...68,964,387 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
Meckel Syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 OMIM
ClinVar		 PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249 		JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:25741914 PMID:26123494 PMID:26595381 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IMP
IAGP		 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
CTD Direct Evidence: marker/mechanism
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11063677, RGD:11070805 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Meckel syndrome, type 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
parietal foramina term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO
IAGP		 ClinVar Annotator: match by term: Cranium bifidum occultum
CTD Direct Evidence: marker/mechanism
OMIM:168500 | OMIM:609566 | OMIM:609597		 ClinVar
CTD
MouseDO		 PMID:11137991 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Msx2 msh homeobox 2 IAGP
ISO		 OMIM:168500 | OMIM:609566 | OMIM:609597
ClinVar Annotator: match by term: CRANIUM BIFIDUM, HEREDITARY | ClinVar Annotator: match by term: Cranium bifidum occultum | ClinVar Annotator: match by term: Enlarged parietal foramina | ClinVar Annotator: match by term: FORAMINA PARIETALIA PERMAGNA
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
Parietal Foramina 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina 1 OMIM
ClinVar		 PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Parietal foramina 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 More... NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14571277 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    physical disorder 5000
      neural tube defect 132
        Encephalocele 27
          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 + 4
          Laryngeal Atresia, Encephalocele, and Limb Deformities 0
          Meckel Syndrome 12 1
          Meckel syndrome 1 15
          Meckel syndrome 13 1
          Meckel syndrome 2 1
          Meckel syndrome 3 1
          Meckel syndrome 4 3
          Meckel syndrome 5 1
          Meckel syndrome 6 3
          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 18300
    disease of anatomical entity 15630
      Urogenital Diseases 4892
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1965
            female reproductive system disease 1962
              prolapse of female genital organ 195
                enterocele 195
                  Encephalocele 27
                    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 + 4
                    Laryngeal Atresia, Encephalocele, and Limb Deformities 0
                    Meckel Syndrome 12 1
                    Meckel syndrome 1 15
                    Meckel syndrome 13 1
                    Meckel syndrome 2 1
                    Meckel syndrome 3 1
                    Meckel syndrome 4 3
                    Meckel syndrome 5 1
                    Meckel syndrome 6 3
                    Meckel-Like Cerebrorenodigital Syndrome 0
                    Podder-Tolmie Syndrome 0
                    Sakoda Complex 0
                    Zechi-Ceide Syndrome 0
                    parietal foramina + 2
paths to the root