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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:cerebral aqueductal stenosis
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Accession:MP:0002958 term browser browse the term
Definition:abnormal narrowing or constriction of the cerebral aqueduct that blocks the flow of cerebrospinal fluid (CSF) in the ventricular system
Comment:Blockage of the cerebral aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus. {xref="https://www.chop.edu/conditions-diseases/hydrocephalus", comment="https://en.wikipedia.org/wiki/Aqueductal_stenosis"}
Synonyms:exact_synonym: Aqueductal stenosis;   aqueduct of Sylvius stenosis;   aqueduct of midbrain stenosis;   cerebral aqueduct stenosis;   mesencephalic duct stenosis;   stenosis of midbrain cerebral aqueduct
 xref: HP:0002410


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cerebral aqueductal stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 IAGP MGI PMID:24614806 NCBI chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502 		JBrowse link
G Ccdc85c coiled-coil domain containing 85C IAGP MGI PMID:15283996 NCBI chr12:108,169,858...108,244,111
Ensembl chr12:108,169,861...108,241,684 		JBrowse link
G Cdc42 cell division cycle 42 IAGP MGI PMID:23150167 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Cfap206 cilia and flagella associated protein 206 IAGP MGI PMID:32376681 NCBI chr 4:34,688,574...34,730,263
Ensembl chr 4:34,688,559...34,730,206 		JBrowse link
G Katnip katanin interacting protein IAGP MGI PMID:26714646 NCBI chr 7:125,307,027...125,473,967
Ensembl chr 7:125,307,060...125,473,965 		JBrowse link
G Rfx4 regulatory factor X, 4 (influences HLA class II expression) IAGP MGI PMID:12925582 NCBI chr10:84,591,895...84,742,402
Ensembl chr10:84,591,926...84,742,402 		JBrowse link
G Rnd3 Rho family GTPase 3 IAGP MGI PMID:23630292 NCBI chr 2:51,020,451...51,039,123
Ensembl chr 2:51,020,450...51,039,123 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP MGI PMID:37219662 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 IAGP MGI PMID:22159418 NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		JBrowse link
G Trim71 tripartite motif-containing 71 IAGP MGI PMID:35379995 NCBI chr 9:114,340,336...114,393,437
Ensembl chr 9:114,336,201...114,393,437 		JBrowse link
G Ulk4 unc-51-like kinase 4 IAGP MGI PMID:27445138 NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263 		JBrowse link
G Wasl WASP like actin nucleation promoting factor IAGP MGI PMID:24462670 NCBI chr 6:24,613,809...24,665,185
Ensembl chr 6:24,613,804...24,665,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17065
    nervous system phenotype 4637
      abnormal nervous system morphology 3664
        abnormal brain morphology 2180
          abnormal brain ventricular system morphology 534
            abnormal cerebral aqueduct morphology 39
              cerebral aqueductal stenosis 12
Path 2
Term Annotations click to browse term
  mammalian phenotype 17065
    nervous system phenotype 4637
      abnormal nervous system morphology 3664
        abnormal brain morphology 2180
          abnormal brain development 830
            hydrocephaly 251
              obstructive hydrocephaly 18
                cerebral aqueductal stenosis 12
paths to the root