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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



show annotations for term's descendants           Sort by:
Acro-Osteolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 IAGP associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) RGD PMID:15990641 RGD:12880041 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Acroosteolysis Dominant Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: Acroosteolysis dominant type ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:28566479 PMID:28776642 More... NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM30 ADAM metallopeptidase domain 30 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,893,533...119,896,515
Ensembl chr 1:119,893,533...119,896,515
JBrowse link
G HAO2 hydroxyacid oxidase 2 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,368,785...119,394,130
Ensembl chr 1:119,368,779...119,394,130
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
JBrowse link
G NOTCH2 notch receptor 2 IAGP
ISS
EXP
ClinVar Annotator: match by term: Hajdu-Cheney syndrome
ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
ClinVar Annotator: match by term: NOTCH2-related condition
ClinVar Annotator: match by term: Arthrodentoosteodysplasia
OMIM:102500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:8723560 PMID:8755249 PMID:9536098 PMID:16199547 PMID:16773578 More... NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G REG4 regenerating family member 4 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,794,017...119,811,460
Ensembl chr 1:119,794,017...119,811,580
JBrowse link
G TBX15 T-box transcription factor 15 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
JBrowse link
G ZNF697 zinc finger protein 697 IAGP ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 1:119,619,377...119,648,266
Ensembl chr 1:119,619,377...119,648,266
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 IAGP
EXP
ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G GRM5 glutamate metabotropic receptor 5 IAGP ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:88,504,642...89,065,982
Ensembl chr11:88,504,576...89,065,982
JBrowse link
G LOC130006572 ATAC-STARR-seq lymphoblastoid active region 5382 IAGP ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:10662808 PMID:11106356 PMID:11180012 PMID:11886537 PMID:12112662 More... NCBI chr11:88,337,452...88,337,731 JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
mandibuloacral dysplasia type A lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP
EXP
DNA:missense mutation:cds:p.R527H (human)
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Mandibuloacral dysostosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
ClinVar
CTD
OMIM
RGD
PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... RGD:12791023 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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 IAGP
EXP
ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
ClinVar Annotator: match by term: PENTTINEN SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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 IAGP ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      bone development disease 3241
        Acro-Osteolysis 23
          Acroosteolysis Dominant Type 1
          Hajdu-Cheney syndrome 11
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 4
          Penttinen-Aula Syndrome 1
          Van Bogaert-Hozay Syndrome 0
          Warburg-Cinotti Syndrome 1
          mandibuloacral dysplasia type A lipodystrophy 4
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      musculoskeletal system disease 11573
        connective tissue disease 7403
          bone disease 5561
            bone remodeling disease 387
              bone resorption disease 202
                Osteolysis 44
                  Acro-Osteolysis 23
                    Acroosteolysis Dominant Type 1
                    Hajdu-Cheney syndrome 11
                    Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 4
                    Penttinen-Aula Syndrome 1
                    Van Bogaert-Hozay Syndrome 0
                    Warburg-Cinotti Syndrome 1
                    mandibuloacral dysplasia type A lipodystrophy 4
paths to the root