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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Zellweger syndrome
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Accession:DOID:905 term browser browse the term
Definition:An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Synonyms:exact_synonym: PBD, ZSS;   Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;   ZS;   ZWS;   Zellweger Disease;   Zellweger Like Syndrome;   Zellweger Spectrum;   Zellweger syndrome spectrum;   Zellweger's Syndrome;   cerebro hepato renal syndrome;   congenital iron overload;   peroxisome biogenesis disorder
 narrow_synonym: cerebrohepatorenal syndrome
 primary_id: MESH:D015211
 alt_id: RDO:0000246
 xref: GARD:7917;   ICD10CM:E71.510;   NCI:C85239;   ORDO:912
For additional species annotation, visit the Alliance of Genome Resources.


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Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:1301993, PMID:1301993 RGD:1598658, RGD:1598658 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO RGD PMID:14673138 RGD:13782195 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Zellweger Spectrum
ClinVar PMID:9398847, PMID:9398848, PMID:10447258, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15542397, PMID:16086329, PMID:16088892, PMID:16141001, PMID:19105186, PMID:21031596, PMID:21844578, PMID:21846392, PMID:25525159, PMID:25741868, PMID:27469511, PMID:27848944, PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple RGD PMID:16141001 RGD:11062374 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by OMIM:214100
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger Spectrum
DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse)
DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1301993, PMID:2063923, PMID:9398847, PMID:9398848, PMID:9539740, PMID:10384394, PMID:10447258, PMID:10480353, PMID:11389485, PMID:11439091, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16086329, PMID:16088892, PMID:16141001, PMID:17055079, PMID:19105186, PMID:19877282, PMID:20952722, PMID:21031596, PMID:21844578, PMID:21846392, PMID:22871920, PMID:23247051, PMID:23757202, PMID:24503136, PMID:25412400, PMID:25525159, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26319495, PMID:26387595, PMID:26643206, PMID:27090541, PMID:27231023, PMID:27469511, PMID:27848944, PMID:27872819, PMID:27882258, PMID:28454995, PMID:28468868, PMID:28492532, PMID:28857144, PMID:30311386, PMID:31207289, PMID:24503136 RGD:25671426, RGD:25671425 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:9683594, PMID:9700193, PMID:10862081, PMID:12794690, PMID:15542397, PMID:17041890, PMID:17702006, PMID:19105186, PMID:19127411, PMID:19142205, PMID:20695019, PMID:21031596, PMID:25525159, PMID:26319495, PMID:28492532, PMID:30640048 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISS OMIM:214100 MouseDO NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
CTD
ClinVar
PMID:9090384, PMID:9632816, PMID:9792857, PMID:10527683, PMID:10837480, PMID:14571262, PMID:14630978, PMID:15184617, PMID:15542397, PMID:19105186, PMID:19127411, PMID:19877282, PMID:21031596, PMID:21465523, PMID:24627108, PMID:25287621, PMID:25741868, PMID:26094004, PMID:26319495, PMID:28492532, PMID:29389947 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040, PMID:19449432 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459, PMID:18285423 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:11890679, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30078639 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
CTD
ClinVar
PMID:1546315, PMID:2454948, PMID:7541833, PMID:7681622, PMID:9452066, PMID:9585609, PMID:10528859, PMID:10652207, PMID:14630978, PMID:15542397, PMID:17041890, PMID:21031596, PMID:21465523, PMID:23430938, PMID:23590336, PMID:23829372, PMID:28089346, PMID:28492532, PMID:30311386, PMID:9288097, PMID:9382874 RGD:13207457, RGD:13207456 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:9090381, PMID:12717447, PMID:12851857, PMID:15542397, PMID:15858711, PMID:16257970, PMID:19877282, PMID:21031596, PMID:25741868, PMID:26287655, PMID:26319495, PMID:26627908, PMID:28492532, PMID:28944237, PMID:30311386, PMID:30366024 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:11583975, PMID:28866057, PMID:9288097 RGD:25440483, RGD:25440485, RGD:13207457 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:8670792, PMID:8940266, PMID:10408779, PMID:11355018, PMID:11873320, PMID:15098231, PMID:15098234, PMID:15542397, PMID:16530715, PMID:17055079, PMID:17190851, PMID:19105186, PMID:19142205, PMID:19877282, PMID:21031596, PMID:21520333, PMID:22871920, PMID:23757202, PMID:24016303, PMID:24033266, PMID:24459294, PMID:25079577, PMID:25741868, PMID:26287655, PMID:26387595, PMID:26467025, PMID:26593283, PMID:26669662, PMID:26700162, PMID:26943801, PMID:27302843, PMID:27779215, PMID:27848944, PMID:28492532, PMID:29220678, PMID:30311386, PMID:31831025 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:8954107, PMID:10709665 RGD:13831312, RGD:13831337 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,528,970...16,539,383
Ensembl chr 9:16,529,579...16,539,472
JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:22864515, PMID:23181892, PMID:24033266, PMID:24108619, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Zellweger Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847, PMID:11389485, PMID:16086329, PMID:16141001, PMID:21031596, PMID:25741868, PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:1301993, PMID:2063923, PMID:9398847, PMID:10447258, PMID:10480353, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16086329, PMID:16141001, PMID:17055079, PMID:20952722, PMID:21031596, PMID:23757202, PMID:25741868, PMID:26287655, PMID:26387595, PMID:26643206, PMID:28468868, PMID:28492532, PMID:30311386 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
Zellweger Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Zellweger syndrome 2 ClinVar PMID:1301993, PMID:9199576, PMID:10447258 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Zellweger syndrome 25
        Cerebrohepatorenal Syndrome, Variant Types 0
        Pseudo-Zellweger Syndrome 1
        Zellweger Leukodystrophy 2
        Zellweger Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            Metabolic Brain Diseases 573
              Metabolic Brain Diseases, Inborn 502
                Zellweger syndrome 25
                  Cerebrohepatorenal Syndrome, Variant Types 0
                  Pseudo-Zellweger Syndrome 1
                  Zellweger Leukodystrophy 2
                  Zellweger Syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.