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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.


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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:9195222 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15954103 PMID:17216251 PMID:20847057 PMID:21897443 PMID:22887978 PMID:24033266 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25575550 PMID:25596306 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28658201 PMID:29098738 PMID:29204651 PMID:29271581 PMID:29854973 PMID:30311386 PMID:30406062 PMID:30828794 PMID:31306228 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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:9792860 PMID:11961012 PMID:12631110 PMID:12748344 PMID:15618242 PMID:19129241 PMID:21897443 PMID:24033266 PMID:24052634 PMID:24633401 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:28492532 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Alport syndrome 15
        autosomal dominant Alport syndrome 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                autosomal dominant Alport syndrome 3
paths to the root