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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Myelomeningocele
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Accession:HP:0002475 term browser browse the term
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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Myelomeningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Lipomyelomeningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of the nervous system 15576
        Abnormal nervous system morphology 4200
          Morphological central nervous system abnormality 4098
            Abnormal meningeal morphology 204
              Meningocele 63
                Myelomeningocele 27
                  Lipomyelomeningocele 2
Path 2
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of the nervous system 15576
        Abnormal nervous system morphology 4200
          Morphological central nervous system abnormality 4098
            Abnormal neural tube morphology 326
              Neural tube defect 326
                Closed neural tube defect 79
                  Meningocele 63
                    Myelomeningocele 27
                      Lipomyelomeningocele 2
paths to the root