Buschke-Ollendorff syndrome - Ontology Report

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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	go back to main search page
Accession:	DOID:0111536	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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Genes (2)

Buschke-Ollendorff syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

elastin

NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325

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
RGD
ClinVar

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

Term paths to the root

Path 1
Term	Annotations
disease	15728
syndrome	10503
Buschke-Ollendorff syndrome	2
Path 2
Term	Annotations
disease	15728
disease of anatomical entity	15372
musculoskeletal system disease	7957
connective tissue disease	5483
bone disease	3972
bone development disease	2349
osteochondrodysplasia	875
osteosclerosis	54
Osteopoikilosis	2
Buschke-Ollendorff syndrome	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS