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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:Onion bulb formation
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Accession:HP:0003383 term browser browse the term
Definition:Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Comment:This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve.
Synonyms:related_synonym: ONION BULB FORMATIONS
 alt_id: HP:0003389;   HP:0007013;   HP:0007022;   HP:0007084;   HP:0008276
 xref: UMLS:C1847906


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Onion bulb formation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO MIM:614487 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP HPO MIM:608236 NCBI chr 8:1,823,300...1,958,641
Ensembl chr 8:1,823,926...1,958,641 		JBrowse link
G COX6A1 cytochrome c oxidase subunit 6A1 IAGP HPO MIM:616039 NCBI chr12:120,438,113...120,440,730
Ensembl chr12:120,438,090...120,440,737 		JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 IAGP HPO MIM:610100 NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549 		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 EGR2 early growth response 2 IAGP HPO MIM:145900 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 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO MIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:214400 MIM:607706 MIM:608340 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 GNB4 G protein subunit beta 4 IAGP HPO MIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO MIM:610532 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G INF2 inverted formin 2 IAGP HPO MIM:614455 NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535 		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 LITAF lipopolysaccharide induced TNF factor IAGP HPO MIM:601098 NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,546,875...11,636,381 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:605588 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 MPZ myelin protein zero IAGP HPO MIM:118200 MIM:145900 MIM:180800 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 MIM:615035 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP HPO MIM:601455 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607684 MIM:607734 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP2 peripheral myelin protein 2 IAGP HPO MIM:618279 NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 MIM:145900 MIM:180800 ORPHA:98916 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO MIM:311070 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		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 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 SBF1 SET binding factor 1 IAGP HPO MIM:615284 NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		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 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 YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO MIM:608323 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
Basal lamina onion bulb formation 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 MIM:214400 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the nervous system 19758
        Abnormal nervous system morphology 4600
          Abnormal myelination 700
            Abnormal peripheral myelination 112
              Onion bulb formation 32
                Basal lamina onion bulb formation 3
paths to the root