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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:Nephrotic Syndrome Type 24
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Accession:DOID:9003441 term browser browse the term
Definition:An autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Caused by homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. (OMIM)
Synonyms:exact_synonym: DAAM2-RELATED CONDITION;   NPHS24
 primary_id: OMIM:619263


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Nephrotic Syndrome Type 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAAM2 dishevelled associated activator of morphogenesis 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 24
ClinVar Annotator: match by term: DAAM2-related condition
ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33232676 NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877 		JBrowse link
G DAAM2-AS1 DAAM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 24 ClinVar PMID:25741868 NCBI chr 6:39,888,790...39,897,380
Ensembl chr 6:39,881,804...39,900,071 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18080
      nephrotic syndrome 206
        familial nephrotic syndrome 72
          Nephrotic Syndrome Type 24 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      Urogenital Diseases 6459
        urinary system disease 2968
          kidney disease 2699
            proteinuria 443
              nephrosis 330
                nephrotic syndrome 206
                  familial nephrotic syndrome 72
                    Nephrotic Syndrome Type 24 2
paths to the root