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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.


show annotations for term's descendants           Sort by:
 
Pierson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:14136829, PMID:15367484, PMID:15372515, PMID:16097004, PMID:16912710, PMID:17256789, PMID:18594871, PMID:20507940, PMID:20556798, PMID:21763483, PMID:23349334, PMID:23595123, PMID:24033266, PMID:25741868, PMID:26108971, PMID:26239645, PMID:26248470, PMID:26467025, PMID:26467726, PMID:27858192, PMID:28492532, PMID:28780565, PMID:29127259, PMID:32860008, PMID:15367484, PMID:15367484 RGD:7207425, RGD:7207425 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME ClinVar PMID:25741868, PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      nephrotic syndrome 116
        Pierson syndrome 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Urogenital Diseases 4147
        urinary system disease 2069
          kidney disease 1857
            proteinuria 501
              nephrosis 235
                nephrotic syndrome 116
                  Pierson syndrome 3
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.