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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:Decreased number of peripheral myelinated nerve fibers
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Accession:HP:0003380 term browser browse the term
Definition:A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Comment:This finding can be demonstrated by nerve biopsy.
Synonyms:exact_synonym: Decreased number of large and small myelinated fibers;   Decreased number of large and small myelinated fibres;   Decreased number of peripheral myelinated nerve fibres;   Loss of myelinated fibers;   Loss of myelinated fibres
 alt_id: HP:0003385;   HP:0003386;   HP:0007093;   HP:0007135;   HP:0007177;   HP:0007320;   HP:0007322
 xref: UMLS:C1858285


show annotations for term's descendants           Sort by:
Decreased number of peripheral myelinated nerve fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHH desert hedgehog signaling molecule IAGP HPO MIM:607080 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:606482 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:614116 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:145900 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 FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP HPO ORPHA:320406 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G GAN gigaxonin IAGP HPO MIM:256850 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:214400 MIM:607706 MIM:607831 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G JPH1 junctophilin 1 IAGP HPO MIM:607831 NCBI chr 8:74,234,700...74,321,540
Ensembl chr 8:74,234,700...74,321,540 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:201300 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO MIM:118210 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO ORPHA:320406 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:605588 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:609260 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:118200 MIM:145900 MIM:180800 MIM:607677 MIM:618184 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607734 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 MIM:145900 MIM:180800 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO MIM:608703 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PRX periaxin IAGP HPO MIM:145900 MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family IAGP HPO MIM:600882 NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:477817 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO MIM:201300 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO MIM:604563 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO MIM:201300 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP HPO MIM:607250 NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO MIM:604484 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TRIM2 tripartite motif containing 2 IAGP HPO MIM:615490 NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:620542 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO MIM:201300 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
Decreased number of large peripheral myelinated nerve fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP HPO MIM:208920 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO MIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:608340 ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		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 HSPB8 heat shock protein family B (small) member 8 IAGP HPO MIM:608673 NCBI chr12:119,178,931...119,194,746
Ensembl chr12:119,171,555...119,224,855 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO ORPHA:298 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:617087 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO ORPHA:497764 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP HPO MIM:615376 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:101111 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PRX periaxin IAGP HPO MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:298 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO MIM:270550 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO MIM:601596 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:162400 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:271245 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO ORPHA:298 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
Decreased number of small peripheral myelinated nerve fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G NGF nerve growth factor IAGP HPO ORPHA:64752 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO MIM:256800 ORPHA:64752 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the nervous system 28558
        Abnormal nervous system morphology 5272
          Abnormal myelination 697
            Abnormal peripheral myelination 112
              Decreased number of peripheral myelinated nerve fibers 50
                Decreased number of large peripheral myelinated nerve fibers 20
                Decreased number of small peripheral myelinated nerve fibers 4
paths to the root