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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:Alport syndrome
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Accession:DOID:10983 term browser browse the term
Definition:A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. (DO)
Synonyms:exact_synonym: Alport's syndrome;   DISEASE OF GLOMERULAR BASEMENT MEMBRANE;   Hematuric Hereditary Nephritis;   Hemorrhagic Familial Nephritis;   congenital hereditary hematuria;   familial nephritis;   hematuria nephropathy deafness syndrome;   hemorrhagic hereditary nephritis;   hereditary familial congenital hemorrhagic nephritis;   hereditary hematuria syndrome;   hereditary interstitial pyelonephritis
 broad_synonym: hereditary nephritis
 primary_id: MESH:D009394
 xref: EFO:0004128;   GARD:5785;   MIM:PS301050;   NCI:C34842;   ORDO:63
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr11:46,701,940...46,799,049 JBrowse link
G Col4a3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria
CTD
ClinVar
RGD
PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 More... RGD:1600924 NCBI chr 9:83,875,849...84,004,955 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane ClinVar PMID:1721625 PMID:3385421 PMID:9536098 PMID:9792860 PMID:11134255 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane
ClinVar
RGD
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 More... RGD:1600687 NCBI chr  X:109,907,251...110,111,214 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:4,581,785...4,591,687 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:12,925,267...12,938,828 JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:111,224,291...111,304,963 JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr10:45,776,907...45,835,473 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,548,664...4,558,237 JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers 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 3A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 More... NCBI chr 9:83,875,849...84,004,955 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss ClinVar PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:109,907,251...110,111,214 JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:111,224,291...111,304,963 JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Autosomal recessive Alport syndrome ClinVar PMID:25741868 NCBI chr16:5,227,157...5,521,163 JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO
ISS
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome
OMIM:203780
OMIM
ClinVar
MouseDO
PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 More... NCBI chr 9:83,875,849...84,004,955 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO
ISS
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome
OMIM:203780
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3385421 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive Alport syndrome ClinVar PMID:24033266 PMID:25741868 NCBI chr15:31,260,390...31,278,222 JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:25,221,668...25,236,241 JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:27392076 PMID:33185949 NCBI chr 4:120,973,519...120,987,871 JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers 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:109,453,712...109,553,758 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 More... NCBI chr 9:83,833,173...83,875,436 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO
ISS
ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome
OMIM:301050
OMIM
ClinVar
MouseDO
PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:109,907,251...110,111,214 JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:109,554,945...109,905,987 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,645,507...80,714,200 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 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      Alport syndrome 20
        AMME complex 0
        Alport Syndrome-Like Hereditary Nephritis 0
        LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME 0
        Progressive Nephropathy with Deafness 0
        X-linked Alport syndrome 7
        autosomal dominant Alport syndrome 4
        autosomal recessive Alport syndrome 7
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            nephritis 496
              Alport syndrome 20
                AMME complex 0
                Alport Syndrome-Like Hereditary Nephritis 0
                LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME 0
                Progressive Nephropathy with Deafness 0
                X-linked Alport syndrome 7
                autosomal dominant Alport syndrome 4
                autosomal recessive Alport syndrome 7
paths to the root