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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:Extra-axial cerebrospinal fluid accumulation
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Accession:HP:0012510 term browser browse the term
Definition:An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.
Synonyms:exact_synonym: Extra-axial CSF accumulation
 xref: UMLS:C4022871



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Extra-axial cerebrospinal fluid accumulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO MIM:615829 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO MIM:617800 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
JBrowse link
G EXOSC2 exosome component 2 IAGP HPO MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO MIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G LMNB2 lamin B2 IAGP HPO MIM:619180 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 MIM:619005 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G NUP214 nucleoporin 214 IAGP HPO MIM:618426 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
JBrowse link
G STAMBP STAM binding protein IAGP HPO MIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP HPO MIM:618798 NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177
JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO MIM:617669 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO MIM:617026 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 103214
    Phenotypic abnormality 102809
      Abnormality of the nervous system 36261
        Abnormal nervous system morphology 11144
          Morphological central nervous system abnormality 11025
            Abnormal cerebrospinal fluid morphology 667
              Extra-axial cerebrospinal fluid accumulation 15
paths to the root