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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:Acro-Osteolysis
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Accession:DOID:9001402 term browser browse the term
Definition:A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
Synonyms:exact_synonym: acro-osteolysis syndrome;   acro-osteolysis syndromes;   acroosteolysis;   acroosteolysis syndrome
 primary_id: MESH:D030981
 alt_id: OMIM:102400
For additional species annotation, visit the Alliance of Genome Resources.


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Acro-Osteolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) RGD PMID:15990641 RGD:12880041 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 ISO OMIM NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,035...21,761,473
JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta ISO OMIM NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO OMIM NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,375
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13430
    Developmental Disease 9916
      bone development disease 1320
        Acro-Osteolysis 8
          Acroosteolysis Dominant Type 0
          Hajdu-Cheney syndrome 1
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
          Mandibuloacral Dysplasia with Type A Lipodystrophy 3
          Penttinen-Aula Syndrome 1
          Van Bogaert-Hozay Syndrome 0
          Warburg-Cinotti Syndrome 1
Path 2
Term Annotations click to browse term
  disease 13430
    disease of anatomical entity 13094
      musculoskeletal system disease 5645
        connective tissue disease 3811
          bone disease 2560
            bone remodeling disease 222
              bone resorption disease 154
                Osteolysis 23
                  Acro-Osteolysis 8
                    Acroosteolysis Dominant Type 0
                    Hajdu-Cheney syndrome 1
                    Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
                    Mandibuloacral Dysplasia with Type A Lipodystrophy 3
                    Penttinen-Aula Syndrome 1
                    Van Bogaert-Hozay Syndrome 0
                    Warburg-Cinotti Syndrome 1
paths to the root