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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:Diffuse white matter abnormalities
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Accession:HP:0007204 term browser browse the term
Comment:This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging.
Synonyms:xref: UMLS:C4024923



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Diffuse white matter abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:1934 ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:613925 MIM:613926 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854
JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP HPO MIM:616763 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 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 ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:34715011 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622
JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:34715011 NCBI chr14:35,121,839...35,317,471 JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO MIM:613075 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
JBrowse link
Confluent hyperintensity of cerebral white matter on MRI term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280210 ORPHA:280219 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the nervous system 29595
        Abnormal nervous system morphology 5496
          Morphological central nervous system abnormality 5380
            Abnormal brain morphology 3896
              Abnormal forebrain morphology 2610
                Abnormal cerebral morphology 2501
                  Abnormal cerebral subcortex morphology 1259
                    Abnormal cerebral white matter morphology 1160
                      Diffuse white matter abnormalities 39
                        Confluent hyperintensity of cerebral white matter on MRI 1
                        Confluent hypointensity of cerebral white matter on MRI 0
paths to the root