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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 NW_004955445 7,498,223 7,530,828 RGD:9068941
G Ambra1 autophagy and beclin 1 regulator 1 JBrowse link NW_004955422 1,455,392 1,644,368 RGD:9068941
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link NW_004955405 34,619,780 34,693,616 RGD:9068941
G Arl13b ADP ribosylation factor like GTPase 13B JBrowse link NW_004955407 3,402,214 3,477,839 RGD:9068941
G Arsg arylsulfatase G JBrowse link NW_004955478 4,326,669 4,475,559 RGD:9068941
G Bhmt betaine--homocysteine S-methyltransferase JBrowse link NW_004955425 21,992,219 22,009,389 RGD:9068941
G Casq2 calsequestrin 2 JBrowse link NW_004955435 18,941,975 18,996,027 RGD:9068941
G Cbs cystathionine beta-synthase JBrowse link NW_004955407 38,924,355 38,939,790 RGD:9068941
G Cecr2 cat eye syndrome chromosome region, candidate 2 JBrowse link NW_004955454 5,581,985 5,643,685 RGD:9068941
G Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link NW_004955436 20,370,950 20,372,677 RGD:9068941
G Csf2 colony stimulating factor 2 JBrowse link NW_004955408 3,452,009 3,454,255 RGD:9068941
G Dlc1 DLC1 Rho GTPase activating protein JBrowse link NW_004955463 3,599,415 3,981,187 RGD:9068941
G Folr1 folate receptor alpha JBrowse link NW_004955414 19,188,830 19,197,728 RGD:9068941
G Fuz fuzzy planar cell polarity protein JBrowse link NW_004955559 1,112,670 1,117,620 RGD:7240710
RGD:9068941
G Ghrl ghrelin and obestatin prepropeptide JBrowse link NW_004955561 1,676,475 1,682,205 RGD:9068941
G Gldc glycine decarboxylase JBrowse link NW_004955434 10,431,434 10,533,118 RGD:9068941
G Gli3 GLI family zinc finger 3 JBrowse link NW_004955460 1,528,457 1,805,584 RGD:9068941
G Grhl3 grainyhead like transcription factor 3 JBrowse link NW_004955452 4,125,792 4,159,699 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Ins insulin JBrowse link NW_004955422 13,909,408 13,910,419 RGD:9068941
G Itgb1 integrin subunit beta 1 JBrowse link NW_004955462 4,454,809 4,483,227 RGD:9068941
G Kat2a lysine acetyltransferase 2A JBrowse link NW_004955451 16,192,228 16,197,103 RGD:9068941
G Kdm2b lysine demethylase 2B JBrowse link NW_004955482 6,774,021 6,885,113 RGD:9068941
G LOC102010322 cytochrome P450 1A2 JBrowse link NW_004955450 3,165,107 3,171,894 RGD:9068941
G Lrp6 LDL receptor related protein 6 JBrowse link NW_004955413 9,080,901 9,237,644 RGD:9068941
G Mlf1 myeloid leukemia factor 1 JBrowse link NW_004955448 9,345,303 9,383,366 RGD:9068941
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link NW_004955466 5,422,141 5,485,773 RGD:9068941
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like JBrowse link NW_004955439 10,432,732 10,621,991 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link NW_004955492 3,372,915 3,474,173 RGD:9068941
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link NW_004955504 5,412,290 5,435,409 RGD:9068941
G Npm1 nucleophosmin 1 JBrowse link NW_004955408 24,151,070 24,218,783 RGD:9068941
G Npy1r neuropeptide Y receptor Y1 JBrowse link NW_004955403 41,681,834 41,693,094 RGD:9068941
G Pard3 par-3 family cell polarity regulator JBrowse link NW_004955462 2,930,171 3,457,358 RGD:9068941
G Pax3 paired box 3 JBrowse link NW_004955453 11,463,407 11,558,001 RGD:9068941
G Por P450 (cytochrome) oxidoreductase JBrowse link NW_004955456 14,698,589 14,748,520 RGD:9068941
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link NW_004955478 4,241,283 4,262,119 RGD:9068941
G Prss8 serine protease 8 JBrowse link NW_004955493 7,970,929 7,976,885 RGD:9068941
G Rad9b RAD9 checkpoint clamp component B JBrowse link NW_004955482 7,405,520 7,459,240 RGD:9068941
G Rrm1 ribonucleotide reductase catalytic subunit M1 JBrowse link NW_004955414 19,850,523 19,904,879 RGD:9068941
G Sall4 spalt like transcription factor 4 JBrowse link NW_004955445 6,824,797 6,841,141 RGD:9068941
G Ski SKI proto-oncogene JBrowse link NW_004955486 8,857,693 8,921,821 RGD:9068941
G Slc2a2 solute carrier family 2 member 2 JBrowse link NW_004955420 1,101,769 1,129,672 RGD:9068941
G Spint2 serine peptidase inhibitor, Kunitz type 2 JBrowse link NW_004955468 1,142,718 1,181,210 RGD:9068941
G Tbxt T-box transcription factor T JBrowse link NW_004955439 15,675,680 15,683,542 RGD:7240710
RGD:9068941
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link NW_004955435 18,890,995 18,933,258 RGD:7240710
RGD:9068941
G Vangl2 VANGL planar cell polarity protein 2 JBrowse link NW_004955468 12,162,084 12,189,322 RGD:7240710
RGD:9068941
G Wipi1 WD repeat domain, phosphoinositide interacting 1 JBrowse link NW_004955478 4,309,975 4,341,107 RGD:9068941
G Zic2 Zic family member 2 JBrowse link NW_004955404 10,731,987 10,735,599 RGD:9068941
G Zic5 Zic family member 5 JBrowse link NW_004955404 10,745,551 10,752,006 RGD:9068941
anencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cecr2 cat eye syndrome chromosome region, candidate 2 JBrowse link NW_004955454 5,581,985 5,643,685 RGD:9068941
G Efna5 ephrin A5 JBrowse link NW_004955418 6,919,270 7,188,561 RGD:9068941
G Lmo4 LIM domain only 4 JBrowse link NW_004955423 6,849,542 6,865,928 RGD:9068941
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link NW_004955504 5,412,290 5,435,409 RGD:9068941
G Rpgrip1l RPGRIP1 like JBrowse link NW_004955433 11,321,504 11,423,981 RGD:9068941
G Trim36 tripartite motif containing 36 JBrowse link NW_004955408 34,909,194 34,939,635 RGD:7240710
RGD:9068941
Arnold-Chiari Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf ETS2 repressor factor JBrowse link NW_004955555 654,945 661,097 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004955434 6,420,850 6,592,797 RGD:9068941
Encephalocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link NW_004955405 25,533,037 25,607,021 RGD:9068941
G Dnai3 dynein axonemal intermediate chain 3 JBrowse link NW_004955423 8,870,877 8,928,070 RGD:9068941
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link NW_004955404 33,713,903 33,897,622 RGD:9068941
G Rpgrip1l RPGRIP1 like JBrowse link NW_004955433 11,321,504 11,423,981 RGD:9068941
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102006464 chromosome unknown open reading frame, human C1orf167 JBrowse link NW_004955486 2,112,698 2,131,296 RGD:9068941
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link NW_004955466 5,422,141 5,485,773 RGD:7240710
RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:7240710
RGD:9068941
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link NW_004955492 3,372,915 3,474,173 RGD:7240710
RGD:9068941
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link NW_004955504 5,412,290 5,435,409 RGD:7240710
RGD:9068941
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link NW_004955507 2,384 25,105 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 NW_004955522 530,752 666,752 RGD:9068941
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link NW_004955407 42,091,211 42,131,343 RGD:7240710
RGD:9068941
G Slc19a1 solute carrier family 19 member 1 JBrowse link NW_004955407 42,132,216 42,154,252 RGD:9068941
lateral meningocele syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link NW_004955495 8,012,370 8,048,616 RGD:7240710
RGD:9068941
Meckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link NW_004955480 8,404,239 8,514,792 RGD:9068941
G Cep290 centrosomal protein 290 JBrowse link NW_004955405 25,533,037 25,607,021 RGD:9068941
G Mks1 MKS transition zone complex subunit 1 JBrowse link NW_004955451 4,805,542 4,818,233 RGD:7240710
RGD:9068941
G Rpgrip1l RPGRIP1 like JBrowse link NW_004955433 11,321,504 11,423,981 RGD:9068941
G Tmem107 transmembrane protein 107 JBrowse link NW_004955467 8,777,078 8,779,164 RGD:9068941
G Tmem67 transmembrane protein 67 JBrowse link NW_004955417 10,097,488 10,137,959 RGD:9068941
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link NW_004955467 8,777,078 8,779,164 RGD:7240710
RGD:9068941
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link NW_004955511 6,164,143 6,167,887 RGD:7240710
RGD:9068941
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link NW_004955417 10,097,488 10,137,959 RGD:7240710
RGD:9068941
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link NW_004955405 25,533,037 25,607,021 RGD:7240710
RGD:9068941
Meckel syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l RPGRIP1 like JBrowse link NW_004955433 11,321,504 11,423,981 RGD:7240710
RGD:9068941
Meckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link NW_004955480 8,404,239 8,514,792 RGD:7240710
RGD:9068941
Meckel Syndrome, Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif14 kinesin family member 14 JBrowse link NW_004955406 36,732,135 36,791,756 RGD:7240710
RGD:9068941
Microhydranencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nde1 nudE neurodevelopment protein 1 JBrowse link NW_004955442 495,704 530,296 RGD:7240710
RGD:9068941
myelomeningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 JBrowse link NW_004955450 16,406,578 16,453,048 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Slc2a1 solute carrier family 2 member 1 JBrowse link NW_004955537 2,408,042 2,438,788 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
parietal foramina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link NW_004955422 3,278,615 3,290,799 RGD:9068941
G Msx2 msh homeobox 2 JBrowse link NW_004955408 27,323,405 27,329,484 RGD:9068941
Parietal Foramina 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link NW_004955408 27,323,405 27,329,484 RGD:7240710
RGD:9068941
Parietal Foramina 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link NW_004955422 3,278,615 3,290,799 RGD:7240710
RGD:9068941
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link NW_004955408 27,323,405 27,329,484 RGD:7240710
RGD:9068941
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flvcr2 FLVCR heme transporter 2 JBrowse link NW_004955612 46,723 99,012 RGD:7240710
RGD:9068941
Sacral Defect and Anterior Sacral Meningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casq2 calsequestrin 2 JBrowse link NW_004955435 18,941,975 18,996,027 RGD:9068941
G Cdx2 caudal type homeobox 2 JBrowse link NW_004955497 7,316,372 7,321,627 RGD:9068941
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link NW_004955512 2,914,834 3,333,440 RGD:9068941
G Ryr1 ryanodine receptor 1 JBrowse link NW_004955468 879,807 1,000,118 RGD:9068941
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link NW_004955435 18,890,995 18,933,258 RGD:7240710
RGD:9068941
spina bifida term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 JBrowse link NW_004955550 1,273,170 1,275,843 RGD:9068941
G Cfl1 cofilin 1 JBrowse link NW_004955422 19,479,181 19,482,571 RGD:9068941
G Chka choline kinase alpha JBrowse link NW_004955422 17,710,981 17,766,256 RGD:9068941
G Crebbp CREB binding protein JBrowse link NW_004955442 13,559,496 13,691,913 RGD:9068941
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link NW_004955551 2,321,190 2,427,000 RGD:9068941
G Gli1 GLI family zinc finger 1 JBrowse link NW_004955458 5,181,761 5,193,500 RGD:9068941
G Gli2 GLI family zinc finger 2 JBrowse link NW_004955459 8,892,917 9,124,672 RGD:9068941
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link NW_004955466 5,422,141 5,485,773 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link NW_004955492 3,372,915 3,474,173 RGD:9068941
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link NW_004955504 5,412,290 5,435,409 RGD:9068941
G Pax3 paired box 3 JBrowse link NW_004955453 11,463,407 11,558,001 RGD:9068941
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase JBrowse link NW_004955439 11,480,094 11,531,842 RGD:9068941
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha JBrowse link NW_004955420 12,464,857 12,513,017 RGD:9068941
G Pdgfra platelet derived growth factor receptor alpha JBrowse link NW_004955447 16,570,652 16,613,410 RGD:9068941
G Pon1 paraoxonase 1 JBrowse link NW_004955432 11,893,473 11,923,035 RGD:9068941
G Ptch1 patched 1 JBrowse link NW_004955422 22,362,330 22,418,062 RGD:9068941
G Rnf2 ring finger protein 2 JBrowse link NW_004955406 23,672,947 23,725,253 RGD:9068941
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link NW_004955481 6,867,175 6,917,548 RGD:9068941
G Txn2 thioredoxin 2 JBrowse link NW_004955413 23,044,866 23,056,017 RGD:9068941
G Vangl2 VANGL planar cell polarity protein 2 JBrowse link NW_004955468 12,162,084 12,189,322 RGD:9068941
Spina Bifida Cystica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin like 6A JBrowse link NW_004955420 8,745,390 8,764,993 RGD:9068941
G Actl6b actin like 6B JBrowse link NW_004955573 259,133 272,043 RGD:9068941
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link NW_004955416 30,687,518 30,798,700 RGD:9068941
G Gfap glial fibrillary acidic protein JBrowse link NW_004955451 17,695,835 17,703,894 RGD:9068941
G Runx1 RUNX family transcription factor 1 JBrowse link NW_004955407 34,108,653 34,342,657 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11658
    physical disorder 719
      neural tube defect 102
        Acalvaria 0
        Arnold-Chiari Malformation + 2
        Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
        Encephalocele + 15
        Folate-Sensitive Neural Tube Defects 5
        Midline Defects, X-Linked 0
        Neural Tube Defects X-Linked 0
        Pentalogy of Cantrell 0
        anencephaly + 13
        myelomeningocele + 5
        parietal foramina + 2
        spina bifida + 36
Path 2
Term Annotations click to browse term
  disease 11658
    Developmental Diseases 8283
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7229
        Congenital Abnormalities 3753
          Nervous System Malformations 802
            neural tube defect 102
              Acalvaria 0
              Arnold-Chiari Malformation + 2
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Encephalocele + 15
              Folate-Sensitive Neural Tube Defects 5
              Midline Defects, X-Linked 0
              Neural Tube Defects X-Linked 0
              Pentalogy of Cantrell 0
              anencephaly + 13
              myelomeningocele + 5
              parietal foramina + 2
              spina bifida + 36
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.