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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


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,088,829...108,154,671
Ensembl chr  X:108,091,668...108,154,671 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP
EXP
ISS		 ClinVar Annotator: match by term: X-linked Alport syndrome
CTD Direct Evidence: marker/mechanism
OMIM:301050
ClinVar Annotator: match by term: COL4A5-related condition
ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome		 ClinVar
OMIM
CTD
MouseDO		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G LOC126863300 BRD4-independent group 4 enhancer GRCh37_chrX:107513459-107514658 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,270,229...108,271,428 JBrowse link
G LOC126863301 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:107884720-107885919 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,641,490...108,642,689 JBrowse link
G MSR1 macrophage scavenger receptor 1 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr11:110,093,392...110,171,841
Ensembl chr11:110,093,392...110,171,841 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      Alport syndrome 22
        X-linked Alport syndrome 9
Path 2
Term Annotations click to browse term
  disease 35756
    Pathological Conditions, Signs and Symptoms 21495
      Signs and Symptoms 16346
        Neurologic Manifestations 15414
          sensory system disease 9761
            Otorhinolaryngologic Diseases 2288
              auditory system disease 1342
                Hearing Disorders 1142
                  Hearing Loss 1136
                    Deafness 652
                      X-linked Alport syndrome 9
paths to the root