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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;   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;   acranias;   neural tube defects;   tethered spinal cord syndrome
 narrow_synonym: SPINA BIFIDA
 primary_id: MESH:D009436
 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 20 48,361,036 48,400,399 RGD:9068941
G AMBRA1 autophagy and beclin 1 regulator 1 JBrowse link 11 46,905,454 47,103,205 RGD:9068941
G APAF1 apoptotic peptidase activating factor 1 JBrowse link 12 99,637,622 99,726,946 RGD:9068941
G ARL13B ADP ribosylation factor like GTPase 13B JBrowse link 3 97,725,136 97,799,932 RGD:9068941
G ARSG arylsulfatase G JBrowse link 17 67,588,500 67,768,454 RGD:9068941
G BHMT betaine--homocysteine S-methyltransferase JBrowse link 5 36,670,854 36,691,942 RGD:9068941
G CASQ2 calsequestrin 2 JBrowse link 1 121,844,494 121,913,311 RGD:9068941
G CBS cystathionine beta-synthase JBrowse link 21 42,670,530 42,693,300 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:7240710
RGD:9068941
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 6 141,213,671 141,215,919 RGD:9068941
G CSF2 colony stimulating factor 2 JBrowse link 5 133,660,775 133,663,146 RGD:9068941
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 JBrowse link 15 73,311,720 73,319,447 RGD:9068941
G DLC1 DLC1 Rho GTPase activating protein JBrowse link 8 9,037,742 9,087,819 RGD:9068941
G FOLR1 folate receptor alpha JBrowse link 11 70,492,039 70,498,665 RGD:9068941
G FOLR2 folate receptor beta JBrowse link 11 70,518,931 70,524,088 RGD:9068941
G FUZ fuzzy planar cell polarity protein JBrowse link 19 55,736,325 55,742,589 RGD:7240710
RGD:9068941
G GHRL ghrelin and obestatin prepropeptide JBrowse link 3 10,573,537 10,580,723 RGD:9068941
G GLDC glycine decarboxylase JBrowse link 9 6,527,242 6,635,778 RGD:9068941
G GLI3 GLI family zinc finger 3 JBrowse link 7 42,056,566 42,322,865 RGD:9068941
G GRHL3 grainyhead like transcription factor 3 JBrowse link 1 24,502,294 24,538,090 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G INS insulin JBrowse link 11 2,230,309 2,231,666 RGD:9068941
G ITGB1 integrin subunit beta 1 JBrowse link 10 33,608,978 33,662,258 RGD:9068941
G KAT2A lysine acetyltransferase 2A JBrowse link 17 15,416,075 15,424,197 RGD:9068941
G KDM2B lysine demethylase 2B JBrowse link 12 122,401,296 122,556,980 RGD:9068941
G LOC100990437 NADPH--cytochrome P450 reductase JBrowse link 7 82,364,311 82,437,530 RGD:9068941
G LOC100991444 cat eye syndrome critical region protein 2 JBrowse link 22 16,229,348 16,417,958 RGD:9068941
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 14 63,223,484 63,293,881 RGD:9068941
G MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like JBrowse link 6 153,384,532 153,619,884 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G NAT2 N-acetyltransferase 2 JBrowse link 8 14,561,281 14,576,669 RGD:9068941
G NPY1R neuropeptide Y receptor Y1 JBrowse link 4 167,372,306 167,392,716 RGD:9068941
G PARD3 par-3 family cell polarity regulator JBrowse link 10 34,807,707 35,393,308 RGD:9068941
G PAX3 paired box 3 JBrowse link 2B 228,022,453 228,121,850 RGD:9068941
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 67,838,484 67,859,610 RGD:9068941
G PRSS8 serine protease 8 JBrowse link 16 31,500,225 31,504,555 RGD:9068941
G PYY peptide YY JBrowse link 17 13,595,066 13,608,832 RGD:9068941
G RAD9B RAD9 checkpoint clamp component B JBrowse link 12 111,467,881 111,497,803 RGD:9068941
G RRM1 ribonucleotide reductase catalytic subunit M1 JBrowse link 11 4,068,119 4,110,474 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 20 49,252,320 49,272,973 RGD:9068941
G SKI SKI proto-oncogene JBrowse link 1 2,091,620 2,174,080 RGD:9068941
G SLC2A2 solute carrier family 2 member 2 JBrowse link 3 176,188,184 176,218,722 RGD:9068941
G SPINT2 serine peptidase inhibitor, Kunitz type 2 JBrowse link 19 43,928,847 43,958,886 RGD:9068941
G TBXT T-box transcription factor T JBrowse link 6 169,095,723 169,106,595 RGD:7240710
RGD:9068941
G VANGL1 VANGL planar cell polarity protein 1 JBrowse link 1 121,915,093 121,970,552 RGD:7240710
RGD:9068941
G VANGL2 VANGL planar cell polarity protein 2 JBrowse link 1 139,676,595 139,704,281 RGD:7240710
RGD:9068941
G WIPI1 WD repeat domain, phosphoinositide interacting 1 JBrowse link 17 67,748,201 67,784,313 RGD:9068941
G ZIC2 Zic family member 2 JBrowse link 13 100,285,212 100,289,598 RGD:9068941
G ZIC5 Zic family member 5 JBrowse link 13 100,266,163 100,273,498 RGD:9068941
anencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX1 ALX homeobox 1 JBrowse link 12 85,902,113 85,923,781 RGD:9068941
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 5 8,017,373 8,049,322 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 16 52,920,790 53,023,178 RGD:9068941
G TRIM36 tripartite motif containing 36 JBrowse link 5 116,279,568 116,335,848 RGD:7240710
Arnold-Chiari Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERF ETS2 repressor factor JBrowse link 19 47,728,192 47,735,808 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,043,336 2,189,409 RGD:9068941
Encephalocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 12 88,896,146 88,988,953 RGD:9068941
G DNAI3 dynein axonemal intermediate chain 3 JBrowse link 1 86,474,457 86,547,080 RGD:9068941
G PIBF1 progesterone immunomodulatory binding factor 1 JBrowse link 13 72,787,220 73,022,473 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 16 52,920,790 53,023,178 RGD:9068941
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1H1orf167 chromosome 1 C1orf167 homolog JBrowse link 1 11,742,198 11,769,299 RGD:9068941
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 14 63,223,484 63,293,881 RGD:7240710
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:7240710
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 1 217,352,707 217,461,313 RGD:7240710
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 5 8,017,373 8,049,322 RGD:7240710
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP55 centrosomal protein 55 JBrowse link 10 93,750,177 93,784,890 RGD:9068941
Knobloch Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 JBrowse link 16 77,292,410 77,378,575 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 21 45,046,791 45,106,225 RGD:7240710
G SLC19A1 solute carrier family 19 member 1 JBrowse link 21 45,108,537 45,155,049 RGD:9068941
lateral meningocele syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NOTCH3 notch receptor 3 JBrowse link 19 15,677,649 15,715,703 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 4 15,204,326 15,345,522 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 12 88,896,146 88,988,953 RGD:9068941
G MKS1 MKS transition zone complex subunit 1 JBrowse link 17 57,137,254 57,151,122 RGD:7240710
G RPGRIP1L RPGRIP1 like JBrowse link 16 52,920,790 53,023,178 RGD:9068941
G TMEM107 transmembrane protein 107 JBrowse link 17 48,214,389 48,217,773 RGD:9068941
G TMEM67 transmembrane protein 67 JBrowse link 8 92,324,402 92,387,437 RGD:9068941
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM107 transmembrane protein 107 JBrowse link 17 48,214,389 48,217,773 RGD:7240710
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM216 transmembrane protein 216 JBrowse link 11 60,055,400 60,062,051 RGD:7240710
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM67 transmembrane protein 67 JBrowse link 8 92,324,402 92,387,437 RGD:7240710
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12H12orf29 chromosome 12 C12orf29 homolog JBrowse link 12 88,882,543 88,897,291 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 12 88,896,146 88,988,953 RGD:7240710
Meckel syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGRIP1L RPGRIP1 like JBrowse link 16 52,920,790 53,023,178 RGD:7240710
Meckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CC2D2A coiled-coil and C2 domain containing 2A JBrowse link 4 15,204,326 15,345,522 RGD:7240710
Meckel Syndrome, Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF14 kinesin family member 14 JBrowse link 1 180,462,381 180,528,302 RGD:7240710
Microhydranencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,948,881 16,004,208 RGD:7240710
myelomeningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 JBrowse link 15 55,237,101 55,349,851 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 43,600,733 43,634,143 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
parietal foramina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX4 ALX homeobox 4 JBrowse link 11 44,714,503 44,729,758 RGD:9068941
G MSX2 msh homeobox 2 JBrowse link 5 176,968,315 176,974,679 RGD:9068941
Parietal Foramina 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSX2 msh homeobox 2 JBrowse link 5 176,968,315 176,974,679 RGD:7240710
Parietal Foramina 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX4 ALX homeobox 4 JBrowse link 11 44,714,503 44,729,758 RGD:7240710
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSX2 msh homeobox 2 JBrowse link 5 176,968,315 176,974,679 RGD:7240710
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLVCR2 FLVCR heme transporter 2 JBrowse link 14 74,975,027 75,045,971 RGD:7240710
Sacral Defect and Anterior Sacral Meningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASQ2 calsequestrin 2 JBrowse link 1 121,844,494 121,913,311 RGD:9068941
G CDX2 caudal type homeobox 2 JBrowse link 13 27,585,194 27,593,632 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 9 74,745,187 75,224,347 RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 19 44,099,196 44,256,470 RGD:9068941
G VANGL1 VANGL planar cell polarity protein 1 JBrowse link 1 121,915,093 121,970,552 RGD:7240710
spina bifida term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 JBrowse link 14 19,381,911 19,384,542 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CFL1 cofilin 1 JBrowse link 11 64,544,275 64,548,372 RGD:9068941
G CHKA choline kinase alpha JBrowse link 11 66,443,275 66,486,517 RGD:9068941
G CREBBP CREB binding protein JBrowse link 16 3,820,507 3,974,200 RGD:9068941
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 JBrowse link 10 93,330,460 93,334,105 RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:9068941
G GLI1 GLI family zinc finger 1 JBrowse link 12 31,710,051 31,722,473 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 2B 121,242,932 121,499,411 RGD:9068941
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 14 63,223,484 63,293,881 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 1 217,352,707 217,461,313 RGD:9068941
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 5 8,017,373 8,049,322 RGD:9068941
G PAX3 paired box 3 JBrowse link 2B 228,022,453 228,121,850 RGD:9068941
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase JBrowse link 6 152,271,206 152,329,221 RGD:9068941
G PCYT1A phosphate cytidylyltransferase 1, choline, alpha JBrowse link 3 203,522,292 203,576,851 RGD:9068941
G PDGFRA platelet derived growth factor receptor alpha JBrowse link 4 76,200,871 76,271,105 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G PTCH1 patched 1 JBrowse link 9 94,668,792 94,741,517 RGD:9068941
G RNF2 ring finger protein 2 JBrowse link 1 164,721,554 164,779,420 RGD:9068941
G SUZ12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 17 25,559,017 25,586,616 RGD:9068941
G TXN2 thioredoxin 2 JBrowse link 22 35,220,721 35,235,891 RGD:9068941
G VANGL2 VANGL planar cell polarity protein 2 JBrowse link 1 139,676,595 139,704,281 RGD:9068941
Spina Bifida Cystica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTL6A actin like 6A JBrowse link 3 184,765,523 184,790,983 RGD:9068941
G ACTL6B actin like 6B JBrowse link 7 106,070,829 106,083,646 RGD:9068941
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 15 29,565,885 29,705,194 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 17 12,579,754 12,589,748 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12642
    physical disorder 715
      neural tube defect 103
        Acalvaria 0
        Arnold-Chiari Malformation + 2
        Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
        Encephalocele + 16
        Folate-Sensitive Neural Tube Defects 5
        Midline Defects, X-Linked 0
        Neural Tube Defects X-Linked 0
        Pentalogy of Cantrell 0
        anencephaly + 11
        myelomeningocele + 5
        parietal foramina + 2
        spina bifida + 37
Path 2
Term Annotations click to browse term
  disease 12642
    Developmental Diseases 8779
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7583
        Congenital Abnormalities 4339
          Nervous System Malformations 832
            neural tube defect 103
              Acalvaria 0
              Arnold-Chiari Malformation + 2
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Encephalocele + 16
              Folate-Sensitive Neural Tube Defects 5
              Midline Defects, X-Linked 0
              Neural Tube Defects X-Linked 0
              Pentalogy of Cantrell 0
              anencephaly + 11
              myelomeningocele + 5
              parietal foramina + 2
              spina bifida + 37
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.