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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: ATS2;   ATS3B;   Alport syndrome 2, autosomal recessive;   Alport syndrome 3B, autosomal recessive;   Alport syndrome type 2;   Alport syndrome-2
 broad_synonym: COL4A4-RELATED CONDITION
 primary_id: MESH:C536587
 alt_id: OMIM:203780;   OMIM:620536
 xref: GARD:625;   MONDO:0008762;   ORDO:88919


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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 chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960 		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 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 More... NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO OMIM:203780 MouseDO NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      Alport syndrome 16
        autosomal recessive Alport syndrome 4
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6384
                autosomal recessive Alport syndrome 4
paths to the root