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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:Pierson syndrome
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Accession:DOID:0060852 term browser browse the term
Definition:A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. (DO)
Synonyms:exact_synonym: congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome;   microcoria and congenital nephrotic syndrome;   microcoria-congenital nephrosis syndrome;   microcoria-congenital nephrotic syndrome
 primary_id: MESH:C537185
 alt_id: OMIM:609049
 xref: GARD:9420;   NCI:C128145;   ORDO:2670
For additional species annotation, visit the Alliance of Genome Resources.


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Pierson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by OMIM:609049
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      nephrotic syndrome 149
        Pierson syndrome 14
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Urogenital Diseases 4356
        urinary system disease 2142
          kidney disease 1921
            proteinuria 550
              nephrosis 269
                nephrotic syndrome 149
                  Pierson syndrome 14
paths to the root