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
Accession: DOID:9001402
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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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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 chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12913070 PMID:17152860
NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar Annotator: match by OMIM:102500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8723560 PMID:8755249 PMID:17159511 PMID:21378985 PMID:21378989 PMID:21712856 PMID:22891273 PMID:22891276 PMID:24728327 PMID:25741868 PMID:27312922 PMID:28492532
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Ctsc
cathepsin C
ISO
ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar Annotator: match by OMIM:245010 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1886537 PMID:10581027 PMID:10593994 PMID:10662807 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:18809751 PMID:18945301 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28492532 PMID:29410039
NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS DNA:missense mutation:cds:p.R527H (human) ClinVar Annotator: match by OMIM:248370 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10080180 PMID:10612827 PMID:10655060 PMID:10999845 PMID:11503164 PMID:12075506 PMID:12628721 PMID:12629077 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14749366 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16278265 PMID:16440304 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:17848409 PMID:17935239 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18604166 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19875404 PMID:20848652 PMID:20980393 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25982065 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27199538 PMID:27532257 PMID:27585670 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29693488 PMID:29791652 PMID:29943882 PMID:30137533 PMID:30165862 PMID:30420677 PMID:30871747 PMID:30901896 PMID:31303467 PMID:31525256 PMID:32004434 PMID:32456328 , PMID:16046620
RGD:12791023
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18554282
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Zmpste24
zinc metallopeptidase STE24
ISO
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar
NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
OMIM ClinVar
PMID:9056558 PMID:23720404 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Warburg-Cinotti syndrome
ClinVar OMIM
PMID:17103436 PMID:23637089 PMID:25741868 PMID:30449416
NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
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