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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Fractures, Compression (D050815)
Parent Node: Osteoporosis (D010024)
..Starting node ..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
Child Nodes:
Sister Nodes:
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
..Exudative vitreoretinopathy 1 (C536382)
..Female Athlete Triad Syndrome (D053716)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hernandez Fragoso syndrome (C536062)
..Juvenile osteoporosis (C537700)
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..Osteoporosis, Postmenopausal (D015663)
..Prader-Willi habitus, osteopenia, and camptodactyly (C538276)
..Premature aging, Okamoto type (C535270)
..Singleton Merten syndrome (C537343)
..Winchester syndrome (C536709)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1370

Name:

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15

Definition:

Alternative IDs:

ParentIDs:

MESH:D010024|MESH:D050815

TreeNumbers:

C05.116.198.579/613418 |C26.404.195/613418

Synonyms:

BMND15 |COMPRESSION FRACTURE, SUSCEPTIBILITY TO |METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO |OSTEOPOROSIS, SUSCEPTIBILITY TO

Slim Mappings:

Musculoskeletal disease|Wounds and injuries

Reference:

MedGen: 613418
MeSH: 613418
OMIM: 613418;

Genes: MIR2861;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000939	Osteoporosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001164737.1(CALCR):c.1442T>C (p.Leu481Pro)	799	CALCR	risk factor	1801197	RCV000019203;	N	MedGen:C2677169,OMIM:613418	7	93055753	93055753	NM_001164737.1:c.1442T>C	NP_001158209.1:p.Leu481Pro	NC_000007.13:g.93055753A>G	OMIM Allelic Variant:114131.0001	C2677169 613418 Bone mineral density quantitative trait locus 15
NM_001261.3(CDK9):c.-199C>G	100422910	MIR2861	association	794728003	RCV000000126;	N	MedGen:C2677169,OMIM:613418	9	130548229	130548229	-	-	NC_000009.11:g.130548229C>G	OMIM Allelic Variant:613405.0001	C2677169 613418 Bone mineral density quantitative trait locus 15