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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 recessive Alport syndrome
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Accession:DOID:0110033 term browser browse the term
Definition:An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. (DO)
Synonyms:exact_synonym: ALPORT SYNDROME TYPE 2;   ATS2;   Alport syndrome 2, autosomal recessive;   Alport syndrome-2
 primary_id: MESH:C536587
 alt_id: OMIM:203780;   RDO:0002213
 xref: GARD:625;   ORDO:88919
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive Alport syndrome term browser
Symbol Object Name 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 2, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Alport syndrome, 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:30406062 PMID:30819905 PMID:30881523 PMID:31027891 PMID:31256874 PMID:31477057 PMID:31807928 PMID:31865346 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:30647093 PMID:31408864 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Alport syndrome 15
        autosomal recessive Alport syndrome 4
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                autosomal recessive Alport syndrome 4
paths to the root