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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:Peripheral hypomyelination
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Accession:HP:0007182 term browser browse the term
Definition:Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.
Comment:This finding can be demonstrated by nerve biopsy.
Synonyms:alt_id: HP:0007012;   HP:0007160;   HP:0007226
 xref: UMLS:C4024927


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Peripheral hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY6 adenylate cyclase 6 IAGP HPO MIM:616287 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO MIM:604168 ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP HPO MIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:605253 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO MIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:611228 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:605285 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO MIM:612780 ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the nervous system 33675
        Abnormal nervous system morphology 8690
          Abnormal myelination 700
            Abnormal peripheral myelination 113
              Peripheral hypomyelination 9
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