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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:Sudanophilic leukodystrophy
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Accession:HP:0003269 term browser browse the term
Synonyms:xref: MSH:D020371;   SNOMEDCT_US:64855000;   UMLS:C0205711


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Sudanophilic leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 IAGP OMIM:260600 HPO NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456
JBrowse link
G BEX2 brain expressed X-linked 2 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,309,346...103,310,990
Ensembl chr  X:103,309,346...103,311,007
JBrowse link
G BEX3 brain expressed X-linked 3 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,376,323...103,378,164
Ensembl chr  X:103,376,395...103,378,164
JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G MORF4L2 mortality factor 4 like 2 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,675,498...103,688,047
Ensembl chr  X:103,675,496...103,688,158
JBrowse link
G PLP1 proteolipid protein 1 IAGP OMIM:312080
ClinVar Annotator: match by term: Sudanophilic leukodystrophy
HPO
ClinVar
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:8723686 PMID:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 PMID:31690835 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP OMIM:264090 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G RAB40A RAB40A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,499,130...103,519,489
Ensembl chr  X:103,499,130...103,519,489
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:8723686 PMID:11071483 PMID:12910435 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 PMID:31690835 NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953
JBrowse link
G TCEAL3 transcription elongation factor A like 3 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,607,963...103,609,927
Ensembl chr  X:103,607,451...103,629,690
JBrowse link
G TCEAL4 transcription elongation factor A like 4 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,576,231...103,587,729
Ensembl chr  X:103,576,231...103,587,729
JBrowse link
G TCEAL5 transcription elongation factor A like 5 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,273,691...103,276,750
Ensembl chr  X:103,273,691...103,276,750
JBrowse link
G TCEAL7 transcription elongation factor A like 7 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,330,239...103,332,326
Ensembl chr  X:103,330,229...103,332,326
JBrowse link
G TCEAL8 transcription elongation factor A like 8 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,252,995...103,255,155
Ensembl chr  X:103,252,995...103,255,192
JBrowse link
G TCEAL9 transcription elongation factor A like 9 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,356,506...103,358,462
Ensembl chr  X:103,356,489...103,358,462
JBrowse link
G TMEM31 transmembrane protein 31 IAGP ClinVar Annotator: match by term: Sudanophilic leukodystrophy ClinVar PMID:31690835 NCBI chr  X:103,710,909...103,714,032
Ensembl chr  X:103,710,909...103,714,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13352
    Phenotypic abnormality 13349
      Abnormality of the nervous system 8618
        Abnormal nervous system morphology 3723
          Abnormal myelination 561
            Abnormal CNS myelination 321
              Leukodystrophy 130
                Sudanophilic leukodystrophy 17
paths to the root