Disease Browser
Parent Node: Bone Diseases, Metabolic (D001851) ..Starting node Osteoporosis (D010024) Child 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) Sister Nodes: ..Aloi Tomasini Isaia syndrome (C537049) ..Bone Demineralization, Pathologic (D018488) ..Chitty Hall Baraitser syndrome (C535928) ..Congenital disorder of glycosylation type 2A (C535752) ..Hypophosphatemic Bone Disease (C564145) ..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475) ..Kaler Garrity Stern syndrome (C537706) ..Mucolipidoses (D009081) ..Osseous Heteroplasia, Progressive (C562735) ..Osteoporosis (D010024) ..Panostotic fibrous dysplasia (C537164) ..Pseudohypoparathyroidism (D011547) ..Renal Osteodystrophy (D012080) ..Revesz Debuse syndrome (C538371) ..Rickets (D012279) UMLS . MedGen , OMIM , CTD
Term ID: 8441 Name: Osteoporosis Definition: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. Alternative IDs: OMIM:166710 ParentIDs: MESH:D001851 TreeNumbers: C05.116.198.579 Synonyms: Age-Related Bone Loss |Age-Related Bone Losses |Age-Related Osteoporoses |Age Related Osteoporosis |Age-Related Osteoporosis |BMND |Bone Loss, Age Related |Bone Loss, Age-Related |Bone Losses, Age-Related |BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS |Osteoporose Slim Mappings: Musculoskeletal disease Reference:
MedGen: D010024
MeSH: D010024 OMIM: 166710 ; Genes: CALCR ; COL1A1 ; COL1A2 ; LRP5 ; PDLIM4 ; VDR ; Phenotypes 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_000089.3(COL1A2):c.1981G>A (p.Gly661Ser) 1278 COL1A2 Pathogenic 72658152 RCV000018799 ; N MedGen:C0029458,OMIM:166710 7 94047820 94047820 NM_000089.3:c.1981G>A NP_000080.2:p.Gly661Ser NC_000007.13:g.94047820G>A OMIM Allelic Variant:120160.0030 C0029458 166710 Osteoporosis NM_002335.3(LRP5):c.4000+9C>T 4041 LRP5 Likely benign;Uncertain significance 148685646 RCV000030153 ; RCV000175300 ; N MedGen:C0029458,OMIM:166710; MedGen:CN169374 11 68201315 68201315 NM_002335.3:c.4000+9C>T NC_000011.9:g.68201315C>T - CN169374 not specified; C0029458 166710 Osteoporosis NM_002335.3(LRP5):c.4635C>T (p.Thr1545=) 4041 LRP5 Likely benign 145406397 RCV000030154 ; N MedGen:C0029458,OMIM:166710 11 68216325 68216325 NM_002335.3:c.4635C>T NP_002326.2:p.Thr1545= NC_000011.9:g.68216325C>T - C0029458 166710 Osteoporosis
Osteoporosis 
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