Term: Myelomeningocele
Accession: HP:0002475
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Definition: Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits.
Synonyms: exact_synonym: Meningomyelocele; Spina bifida cystica
xref: Fyler:4309; MESH:D008591 ; SNOMEDCT_US:203994003; SNOMEDCT_US:414667000; UMLS:C0025312
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ALX4
ALX homeobox 4
IAGP
HPO
ORPHA:60015
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ARPC4
actin related protein 2/3 complex subunit 4
IAGP
HPO
OMIM:620141
NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101
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BMPER
BMP binding endothelial regulator
IAGP
HPO
ORPHA:66637
NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427
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CCL2
C-C motif chemokine ligand 2
IAGP
HPO
OMIM:182940
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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DACT1
dishevelled binding antagonist of beta catenin 1
IAGP
HPO
ORPHA:63260
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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FLNA
filamin A
IAGP
HPO
ORPHA:90652
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FRAS1
Fraser extracellular matrix complex subunit 1
IAGP
HPO
OMIM:219000 ORPHA:2052
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
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FREM2
FRAS1 related extracellular matrix 2
IAGP
HPO
ORPHA:2052
NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
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FUZ
fuzzy planar cell polarity protein
IAGP
HPO
OMIM:182940
NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
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GLI3
GLI family zinc finger 3
IAGP
HPO
ORPHA:93322
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GRIP1
glutamate receptor interacting protein 1
IAGP
HPO
ORPHA:2052
NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
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H19
H19 imprinted maternally expressed transcript
IAGP
HPO
ORPHA:2128
NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
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HES7
hes family bHLH transcription factor 7
IAGP
HPO
OMIM:613686
NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
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IGF2
insulin like growth factor 2
IAGP
HPO
ORPHA:2128
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1
IAGP
HPO
ORPHA:2128
NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
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MSX2
msh homeobox 2
IAGP
HPO
ORPHA:60015
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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OFD1
OFD1 centriole and centriolar satellite protein
IAGP
HPO
OMIM:311200
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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PAX3
paired box 3
IAGP
HPO
OMIM:193500
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
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PORCN
porcupine O-acyltransferase
IAGP
HPO
OMIM:305600
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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SIN3A
SIN3 transcription regulator family member A
IAGP
HPO
ORPHA:94065
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SNRPB
small nuclear ribonucleoprotein polypeptides B and B1
IAGP
HPO
ORPHA:1393
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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TBXT
T-box transcription factor T
IAGP
HPO
OMIM:182940
NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700
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VANGL1
VANGL planar cell polarity protein 1
IAGP
HPO
OMIM:182940 OMIM:600145
NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
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VANGL2
VANGL planar cell polarity protein 2
IAGP
HPO
OMIM:182940
NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670
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ZIC3
Zic family member 3
IAGP
HPO
OMIM:306955
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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HNRNPK
heterogeneous nuclear ribonucleoprotein K
IAGP
HPO
OMIM:616580
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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SMO
smoothened, frizzled class receptor
IAGP
HPO
OMIM:601707
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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