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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:Meningoencephalocele
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Accession:HP:0006888 term browser browse the term
Synonyms:xref: SNOMEDCT_US:52330001;   UMLS:C0266456


show annotations for term's descendants           Sort by:
Meningoencephalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP HPO MIM:236670 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:236670 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the nervous system 28524
        Abnormal nervous system morphology 5271
          Morphological central nervous system abnormality 5156
            Encephalocele 122
              Meningoencephalocele 5
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8651
          Abnormal skeletal morphology 8067
            Abnormal axial skeleton morphology 3382
              Abnormal skull morphology 2606
                Cephalocele 122
                  Encephalocele 122
                    Meningoencephalocele 5
paths to the root