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ONTOLOGY REPORT - ANNOTATIONS
Term:neural tube defect
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Accession:DOID:0080074 term browser browse the term
Definition:Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)
Synonyms:exact_synonym: Acrania;   Acranias;   Craniorachischises;   Craniorachischisis;   Developmental Neural Tube Defects;   Diastematomyelia;   Diastematomyelias;   Exencephalies;   Exencephaly;   Iniencephalies;   Iniencephaly;   NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO;   NTD;   Neurenteric Cyst;   Neurenteric Cysts;   Neuroenteric Cyst;   Neuroenteric Cysts;   Occult Spinal Dysraphism;   Occult Spinal Dysraphism Sequence;   Occult Spinal Dysraphisms;   Spinal Cord Myelodysplasia;   Spinal Cord Myelodysplasias;   Tethered Cord Syndrome;   Tethered Cord Syndromes;   Tethered Spinal Cord Syndrome;   neural tube defects
 narrow_synonym: SPINA BIFIDA
 primary_id: MESH:D009436;   RDO:0000768
 alt_id: OMIM:182940
 xref: GARD:4016
For additional species annotation, visit the Alliance of Genome Resources.

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neural tube defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:2312793
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:11553935
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:8554872
G Bhmt betaine-homocysteine S-methyltransferase JBrowse link 2 23,236,573 23,256,158 RGD:11554173
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600627
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:7240710
RGD:11554173
G Cecr2 CECR2, histone acetyl-lysine reader JBrowse link 4 153,217,521 153,327,153 RGD:11554173
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:734781
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
G Dlc1 DLC1 Rho GTPase activating protein JBrowse link 16 58,776,489 59,247,752 RGD:8554872
G Folr1 folate receptor alpha JBrowse link 1 166,934,457 166,945,864 RGD:11554173
G Folr2 folate receptor beta JBrowse link 1 166,915,045 166,933,377 RGD:11554173
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:7240710
RGD:11554173
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:11554173
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:12904662
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:11554173
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:8554872
G Kat2a lysine acetyltransferase 2A JBrowse link 10 88,611,586 88,619,558 RGD:9590240
G Kdm2b lysine demethylase 2B JBrowse link 12 39,021,924 39,161,954 RGD:9588256
G Lrp6 LDL receptor related protein 6 JBrowse link 4 168,194,054 168,323,962 RGD:13592920
G Mlf1 myeloid leukemia factor 1 JBrowse link 2 164,549,423 164,582,645 RGD:1600902
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:1600189
RGD:11086705
RGD:11554173
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like JBrowse link 1 40,529,092 40,719,232 RGD:12914147
RGD:13592920
RGD:12914149
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:8554872
RGD:11565102
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:13592920
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:11554173
G Npm1 nucleophosmin 1 JBrowse link 10 18,080,949 18,091,062 RGD:1600902
G Npy1r neuropeptide Y receptor Y1 JBrowse link 16 24,779,480 24,789,131 RGD:11554173
G Pard3 par-3 family cell polarity regulator JBrowse link 19 60,017,746 60,580,628 RGD:8554872
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:4889811
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:11554173
G Pyy peptide YY JBrowse link 10 90,047,989 90,049,155 RGD:11554173
G Rad9b RAD9 checkpoint clamp component B JBrowse link 12 39,699,076 39,731,218 RGD:8554872
G Rrm1 ribonucleotide reductase catalytic subunit M1 JBrowse link 1 167,538,387 167,562,688 RGD:11554173
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556229
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:11554173
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:2312360
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 RGD:11554173
G Tbxt T-box transcription factor T JBrowse link 1 52,887,067 52,900,691 RGD:7240710
RGD:11554173
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:11554173
RGD:8554872
RGD:7240710
G Vangl2 VANGL planar cell polarity protein 2 JBrowse link 13 90,379,203 90,405,627 RGD:11554173
RGD:7240710
G Wipi1 WD repeat domain, phosphoinositide interacting 1 JBrowse link 10 97,859,730 97,896,949 RGD:8554872
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:1331525
RGD:11554173
G Zic5 Zic family member 5 JBrowse link 15 108,891,992 108,907,601 RGD:11554173
anencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:734689
G Cecr2 CECR2, histone acetyl-lysine reader JBrowse link 4 153,217,521 153,327,153 RGD:13592920
G Efna5 ephrin A5 JBrowse link 9 110,054,002 110,329,878 RGD:13592920
G Lmo4 LIM domain only 4 JBrowse link 2 250,218,635 250,235,435 RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11098877
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Trim36 tripartite motif-containing 36 JBrowse link 18 40,081,028 40,134,673 RGD:8554872
RGD:7240710
Arnold-Chiari Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:11554173
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
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 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
lateral meningocele syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:7240710
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
Microhydranencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:7240710
RGD:8554872
myelomeningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 JBrowse link 8 77,640,234 77,719,488 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11070819
RGD:12879498
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
Neural Tube Defect, Folate-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102551309 uncharacterized LOC102551309 JBrowse link 5 164,875,558 164,885,606 RGD:8554872
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:7240710
RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7240710
RGD:8554872
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
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
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flvcr2 FLVCR heme transporter 2 JBrowse link 6 109,617,348 109,681,495 RGD:7240710
RGD:8554872
Sacral Defect and Anterior Sacral Meningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
G Cdx2 caudal type homeo box 2 JBrowse link 12 9,464,026 9,470,565 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:7240710
RGD:8554872
spina bifida term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 JBrowse link 15 27,849,943 27,852,083 RGD:2315675
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8554872
RGD:11554173
G Cfl1 cofilin 1 JBrowse link 1 220,869,805 220,873,337 RGD:11554173
G Chka choline kinase alpha JBrowse link 1 219,076,618 219,126,221 RGD:11554173
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 JBrowse link 1 256,382,861 256,386,729 RGD:737785
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:12801432
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:12801432
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:1600190
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:6893455
RGD:11554173
RGD:11565178
RGD:11565104
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:1302512
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:5508199
RGD:1302512
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 JBrowse link 1 1,734,863 1,767,759 RGD:11554173
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha JBrowse link 11 71,547,865 71,592,037 RGD:11554173
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:12801432
G Rnf2 ring finger protein 2 JBrowse link 13 68,829,714 68,859,920 RGD:9491842
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 10 67,325,101 67,371,588 RGD:9491842
G Txn2 thioredoxin 2 JBrowse link 7 119,144,350 119,158,173 RGD:11554173
G Vangl2 VANGL planar cell polarity protein 2 JBrowse link 13 90,379,203 90,405,627 RGD:11554173
Spina Bifida Cystica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:9587760
G Actl6b actin-like 6B JBrowse link 12 22,194,595 22,211,107 RGD:9587760
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:11554173
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Runx1 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:11251712
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    physical disorder 781
      neural tube defect 106
        Acalvaria 0
        Arnold-Chiari Malformation + 1
        Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
        Encephalocele + 15
        Midline Defects, X-Linked 0
        Neural Tube Defect, Folate-Sensitive 5
        Neural Tube Defects X-Linked 0
        Pentalogy of Cantrell 0
        anencephaly + 14
        myelomeningocele + 5
        parietal foramina + 2
        spina bifida + 38
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        Congenital Abnormalities 3901
          Nervous System Malformations 783
            neural tube defect 106
              Acalvaria 0
              Arnold-Chiari Malformation + 1
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Encephalocele + 15
              Midline Defects, X-Linked 0
              Neural Tube Defect, Folate-Sensitive 5
              Neural Tube Defects X-Linked 0
              Pentalogy of Cantrell 0
              anencephaly + 14
              myelomeningocele + 5
              parietal foramina + 2
              spina bifida + 38
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.