Term: | Diffuse white matter abnormalities |
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Accession: | HP:0007204
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browse the term
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Comment: | This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. |
Synonyms: | xref: | UMLS:C4024923 |
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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ORPHA:79255 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 ORPHA:208447 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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HEPACAM |
hepatic and glial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:613925 MIM:613926 |
NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
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HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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IAGP |
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HPO |
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ORPHA:457359 |
NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
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HTRA1 |
HtrA serine peptidase 1 |
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IAGP |
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HPO |
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MIM:600142 |
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
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IAGP |
ClinVar Annotator: match by term: Diffuse white matter abnormalities |
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 PMID:19716085 PMID:19841300 PMID:20301308 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28438721 PMID:28492532 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
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NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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OSTM1 |
osteoclastogenesis associated transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:259720 |
NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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PLEKHG2 |
pleckstrin homology and RhoGEF domain containing G2 |
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IAGP |
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HPO |
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MIM:616763 |
NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415
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PNKP |
polynucleotide kinase 3'-phosphatase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMK |
protein O-mannose kinase |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PRORP |
protein only RNase P catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Diffuse white matter abnormalities |
ClinVar |
PMID:34715011 |
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NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622
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PRORP-PSMA6 |
PRORP-PSMA6 readthrough |
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IAGP |
ClinVar Annotator: match by term: Diffuse white matter abnormalities |
ClinVar |
PMID:34715011 |
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NCBI chr14:35,121,839...35,317,471
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RIN2 |
Ras and Rab interactor 2 |
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IAGP |
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HPO |
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MIM:613075 |
NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
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SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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SCO2 |
synthesis of cytochrome C oxidase 2 |
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IAGP |
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HPO |
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MIM:604377 |
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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SLC12A6 |
solute carrier family 12 member 6 |
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IAGP |
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HPO |
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MIM:218000 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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TIMM50 |
translocase of inner mitochondrial membrane 50 |
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IAGP |
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HPO |
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ORPHA:505216 |
NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
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VPS11 |
VPS11 core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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ORPHA:466934 |
NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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PLP1 |
proteolipid protein 1 |
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IAGP |
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HPO |
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ORPHA:280210 ORPHA:280219 |
NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619
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