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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.

show annotations for term's descendants           Sort by:
 
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 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020 		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 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO RGD PMID:14673138 RGD:13782195 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		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 PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:11810299 PMID:26669662 PMID:27779215 PMID:28492532 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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:9536098 More... RGD:25671426, RGD:25671425 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum		 CTD
ClinVar		 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISS OMIM:214100 MouseDO NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		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 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:19449432 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		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:9837814 PMID:11890679 PMID:16199547 PMID:20647552 PMID:20681997 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum		 CTD
ClinVar		 PMID:1546315 PMID:2454948 PMID:7541833 PMID:7681622 PMID:9452066 More... RGD:13207457, RGD:13207456 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		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 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:11583975 PMID:28866057 PMID:9288097 RGD:25440483, RGD:25440485, RGD:13207457 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum		 CTD
ClinVar		 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:8954107 PMID:10709665 RGD:13831312, RGD:13831337 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:9683594 PMID:10862081 PMID:15542397 PMID:19105186 PMID:21031596 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		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 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400 		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 9:14,218,366...14,229,141
Ensembl chr 9:14,218,802...14,229,235 		JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		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 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		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:16199547 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847 PMID:11389485 PMID:16086329 PMID:16141001 PMID:16199547 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Zellweger syndrome 26
        Cerebrohepatorenal Syndrome, Variant Types 0
        Pseudo-Zellweger Syndrome 1
        Zellweger Leukodystrophy 3
        Zellweger Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            Metabolic Brain Diseases 605
              Metabolic Brain Diseases, Inborn 535
                Zellweger syndrome 26
                  Cerebrohepatorenal Syndrome, Variant Types 0
                  Pseudo-Zellweger Syndrome 1
                  Zellweger Leukodystrophy 3
                  Zellweger Syndrome 2 0
paths to the root