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Buschke-Ollendorff syndrome - Ontology Report - Rat Genome Database

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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:Buschke-Ollendorff syndrome
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Accession:DOID:0111536 term browser browse the term
Definition:A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. (DO)
Synonyms:exact_synonym: BOS;   Dermatofibrosis lenticularis disseminata with osteopoikilosis;   Dermatoosteopoikilosis;   LEMD3-RELATED CONDITION;   dermatofibrosis lenticularis disseminata;   disseminated dermatofibrosis with osteopoikilosis;   osteopathia condensans disseminata
 related_synonym: DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED;   OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS;   OSTEOPOIKILOSIS, ISOLATED;   osteopoikilosis with melorheostosis
 primary_id: MESH:C537415
 alt_id: MIM:166700
 xref: GARD:1044;   ORDO:1306

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Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G G ELN elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr28:8,999,164...9,048,703 JBrowse link
G P ELN elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G S Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G D ELN elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G B ELN elastin ISO RGD PMID:1629625 RGD:9585749
G C Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G R Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G M Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G H ELN elastin IEP RGD PMID:1629625 RGD:9585749 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G G LEMD3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553842 NCBI chr11:60,861,671...60,945,858
Ensembl chr11:60,862,265...60,946,040 		JBrowse link
G P LEMD3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553842 NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875 		JBrowse link
G S Lemd3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553842 NCBI chrNW_004936545:3,385,821...3,453,861
Ensembl chrNW_004936545:3,385,062...3,454,243 		JBrowse link
G D LEMD3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553842 NCBI chr10:7,775,995...7,833,895
Ensembl chr10:7,777,946...7,834,107 		JBrowse link
G B LEMD3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553842 NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314 		JBrowse link
G R Lemd3 LEM domain containing 3 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human) 		OMIM
CTD
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
G M Lemd3 LEM domain containing 3 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutation:cds:c.2203C>T(human) 		OMIM
CTD
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553840, RGD:11553842, RGD:11553843, RGD:11553844 NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237 		JBrowse link
G H LEMD3 LEM domain containing 3 no_association IAGP
EXP 		DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: LEMD3-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis
ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human) 		ClinVar
CTD
OMIM
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553840, RGD:11553844, RGD:11553843, RGD:11553842 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G H LOC130008224 ATAC-STARR-seq lymphoblastoid silent region 4630 IAGP ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: LEMD3-related condition 		ClinVar PMID:25741868 PMID:28492532 NCBI chr12:65,169,871...65,170,080 JBrowse link
G H LOC130008225 ATAC-STARR-seq lymphoblastoid active region 6608 IAGP ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata ClinVar PMID:28492532 NCBI chr12:65,170,661...65,170,740 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    syndrome 133709
      Buschke-Ollendorff syndrome 20
Path 2
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      Skin and Connective Tissue Diseases 95770
        connective tissue disease 71902
          bone disease 52154
            bone remodeling disease 3524
              osteosclerosis 627
                Osteopoikilosis 20
                  Buschke-Ollendorff syndrome 20
paths to the root