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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;   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;   hereditary nephritis
 primary_id: MESH:D009394
 xref: GARD:5785;   NCI:C34842;   OMIM:PS301050;   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 Col4a3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965, PMID:7987301 RGD:1600924 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
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar PMID:1721625, PMID:9792860, PMID:11134255, PMID:11685592, PMID:11961012, PMID:12028435, PMID:12631110, PMID:14582039, PMID:14871398, PMID:15618242, PMID:15880327, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24130771, PMID:25381091, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27884173, PMID:28059119, PMID:28492532, PMID:28780565, PMID:29098738 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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 PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532, PMID:2349482 RGD:1600687 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
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 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
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:1400291, PMID:7633417, PMID:7780062, PMID:7987301, PMID:7987396, PMID:8956999, PMID:9195222, PMID:9269635, PMID:9647515, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:17396119, PMID:18436078, PMID:20847057, PMID:21897443, PMID:22887978, PMID:23297803, PMID:23927549, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:24944784, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25407002, PMID:25450602, PMID:25525159, PMID:25575550, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26277931, PMID:26346198, PMID:26467025, PMID:26594346, PMID:26795916, PMID:26809805, PMID:27281700, PMID:27627812, PMID:27796712, PMID:27859054, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28570636, PMID:28658201, PMID:29127259, PMID:29204651, PMID:29270492, PMID:29271581, PMID:29854973, PMID:29946535, PMID:30311386, PMID:30406062, PMID:30881523, PMID:31807928, PMID:32860008 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 recessive
ClinVar Annotator: match by term: Alport syndrome type 2
OMIM
ClinVar
PMID:7987396, PMID:8787673, PMID:9195222, PMID:9792860, PMID:11961012, PMID:12028435, PMID:12325029, PMID:12631110, PMID:12748344, PMID:14582039, PMID:15618242, PMID:15954103, PMID:16338941, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:21196518, PMID:21897443, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24522496, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25514610, PMID:25525159, PMID:25596306, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28632965, PMID:28968992, PMID:29098738, PMID:29801666, PMID:30311386 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:15928032 RGD:7204486 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
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: NEPHROPATHY AND DEAFNESS, X-LINKED ClinVar NCBI chr  X:112,328,907...112,403,157 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, PMID:24033266, PMID:24130771, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:28492532, PMID:28780565 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar Annotator: match by OMIM:301050
OMIM
ClinVar
PMID:1330889, PMID:1352287, PMID:1363780, PMID:1376965, PMID:1577459, PMID:1598909, PMID:1672282, PMID:1783380, PMID:2349482, PMID:6650503, PMID:7599631, PMID:7695699, PMID:7969679, PMID:8081393, PMID:8218237, PMID:8406498, PMID:8433568, PMID:8455372, PMID:8648925, PMID:8651292, PMID:8651296, PMID:8807602, PMID:8825605, PMID:8940267, PMID:9150741, PMID:9195222, PMID:9848783, PMID:10094548, PMID:10561141, PMID:10563487, PMID:10684360, PMID:10752524, PMID:10862091, PMID:10955921, PMID:11004279, PMID:11223851, PMID:11462238, PMID:11572889, PMID:12105244, PMID:12436246, PMID:12796257, PMID:13582260, PMID:14514738, PMID:14604828, PMID:14856448, PMID:14993485, PMID:15149316, PMID:15780079, PMID:15954103, PMID:15957001, PMID:16517570, PMID:16941480, PMID:17277342, PMID:17396119, PMID:17660027, PMID:18083113, PMID:18332068, PMID:18343956, PMID:18350645, PMID:18584212, PMID:18616531, PMID:18846626, PMID:19065523, PMID:19281745, PMID:19344236, PMID:19444485, PMID:19693995, PMID:19728970, PMID:19919694, PMID:19937058, PMID:19965530, PMID:19965532, PMID:20130921, PMID:20378821, PMID:20881942, PMID:21143337, PMID:21332469, PMID:21380622, PMID:21505094, PMID:21848006, PMID:22518824, PMID:22921432, PMID:22995991, PMID:23572034, PMID:23720012, PMID:23732293, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24088041, PMID:24304881, PMID:24337245, PMID:24470729, PMID:24522658, PMID:24759409, PMID:24854265, PMID:25307721, PMID:25525159, PMID:25575550, PMID:25739341, PMID:25741868, PMID:25788563, PMID:26063487, PMID:26168235, PMID:26467025, PMID:26581810, PMID:26613025, PMID:26633545, PMID:26809805, PMID:26866448, PMID:26934356, PMID:27281700, PMID:27353043, PMID:27627812, PMID:27725546, PMID:27725732, PMID:27859054, PMID:28013382, PMID:28492532, PMID:28570636, PMID:28827396, PMID:28844315, PMID:29144512, PMID:29198386, PMID:29526710, PMID:29854973, PMID:30311386, PMID:30577881, PMID:31144478 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Alport Syndrome, X-Linked
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar PMID:9195222, PMID:11223851, PMID:18584212, PMID:19444485, PMID:21380622 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
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, PMID:25741868, PMID:28492532 NCBI chr16:56,817,714...56,900,025
Ensembl chr16:56,813,791...56,900,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Alport syndrome 14
        AMME complex 1
        Alport Syndrome-Like Hereditary Nephritis 0
        Daentl Towsend Siegel Syndrome 0
        Deafness, Nephritis, Anorectal Malformation 0
        Leiomyomatosis, Esophageal and Vulval, with Nephropathy 0
        Progressive Nephropathy with Deafness 0
        Progressive Renal Failure with Hypertension 1
        Salcedo Syndrome 0
        X-linked Alport syndrome 5
        autosomal dominant Alport syndrome 3
        autosomal recessive Alport syndrome 4
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Urogenital Diseases 4157
        urinary system disease 2075
          kidney disease 1863
            nephritis 423
              Alport syndrome 14
                AMME complex 1
                Alport Syndrome-Like Hereditary Nephritis 0
                Daentl Towsend Siegel Syndrome 0
                Deafness, Nephritis, Anorectal Malformation 0
                Leiomyomatosis, Esophageal and Vulval, with Nephropathy 0
                Progressive Nephropathy with Deafness 0
                Progressive Renal Failure with Hypertension 1
                Salcedo Syndrome 0
                X-linked Alport syndrome 5
                autosomal dominant Alport syndrome 3
                autosomal recessive Alport syndrome 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.