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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:X-linked Alport syndrome
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Accession:DOID:0110034 term browser browse the term
Definition:An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)
Synonyms:exact_synonym: ALPORT SYNDROME 1, X-LINKED RECESSIVE;   ATS;   ATS1;   COL4A5-RELATED CONDITION;   X-linked Alport syndrome-1;   X-linked nephritis;   nephropathy and deafness, X-linked
 primary_id: OMIM:301050
 alt_id: OMIA:001112
 xref: ORDO:88917


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X-linked Alport syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:301050
ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr16:52,717,775...52,803,602
Ensembl chr16:52,717,732...52,799,676 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Alport syndrome 17
        X-linked Alport syndrome 7
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            Otorhinolaryngologic Diseases 1734
              auditory system disease 991
                Hearing Disorders 818
                  Hearing Loss 813
                    Deafness 373
                      X-linked Alport syndrome 7
paths to the root