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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:autosomal dominant Alport syndrome
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Accession:DOID:0110032 term browser browse the term
Definition:An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene. (DO)
Synonyms:exact_synonym: ATS3;   Alport syndrome 3, autosomal dominant;   renal failure, and sensorineural hearing loss
 primary_id: MESH:C536586
 alt_id: OMIM:104200;   RDO:0002212
 xref: GARD:624;   ORDO:88918
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autosomal dominant Alport syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
OMIM
ClinVar
PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Alport syndrome 18
        autosomal dominant Alport syndrome 3
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                autosomal dominant Alport syndrome 3
paths to the root