Bone remodeling disease

Summary

Bone remodeling disease (MONDO:0000833) is a disease (an umbrella term covering 6 Mondo subtypes) with 14 GWAS associations across 4 studies. A subtype of bone disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes
• GWAS associations: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bone remodeling disease
Mondo ID	MONDO:0000833
DOID	DOID:0080005
Is cancer (heuristic)	no

Data availability: 14 GWAS associations (4 studies).

Disease family

This is a subtype of bone disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone remodeling disease

Related subtypes (26): disease of bone structure, mucopolysaccharidosis type 1, bone inflammation disease, Baastrup syndrome, periostitis, osteonecrosis, bone development disease, ainhum, cervical rib disease, coxoauricular syndrome, metachondromatosis, mucopolysaccharidosis type 9, Sagliker syndrome, mixed sclerosing bone dystrophy with extra-skeletal manifestations, GM1 gangliosidosis, skeletal dysplasia, autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome, mucopolysaccharidosis type 3, bone neoplasm, skull disorder, Duane anomaly-myopathy-scoliosis syndrome, mueller-weiss syndrome, SLC10A7-congenital disorder of glycosylation, metabolic bone disorder, proteoglycan-related bone disorder, ACAN-related short stature spectrum

Subtypes (6): bone resorption disease, fibrous dysplasia, osteomalacia, hyperostosis, osteosclerosis, rickets

Genetics & variants

GWAS landscape

14 GWAS associations across 4 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs573242904	4e-13	LINC02500 - TENM3-AS1	C	4.23
rs143457567	4e-13	POLD2P1 - NR2F1-AS1	G	2.83
rs186997188	3e-12	LRRIQ1	A	2.92
rs543470772	5e-12	CCBE1	G	3.41
rs576348628	6e-12	CHST11	G	4.64
rs529929509	8e-12	PDZRN4	C	3.5
rs565728096	9e-12	FCRL4P1 - RRBP1P2	G	3.7
rs532709505	1e-11	DNAH11	G	4.96
rs118066617	2e-11	CARS2	C	2.74
rs184027577	2e-11	ELAVL1 - CCL25	G	3.94
rs116547528	2e-11	ABCC5 - EEF1A1P8	A	3.16
rs190322680	2e-11	ATRNL1	T	3.04
rs578227000	3e-11	RGS7BP	C	3.97
rs939726630	3e-11	CSMD1	G	4.13

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477365	Verma A	2024	510	450,323	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479911	Verma A	2024	294	121,450	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481610	Verma A	2024	294	121,450	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435743	Zhou W	2018	77	406,492	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	14

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	14
unknown	0

Functional consequences

Consequence	Count
intron_variant	10
intergenic_variant	4

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs573242904	4	181530539	C>A,T	0	intergenic_variant	LINC02500 - TENM3-AS1	4e-13	Tier 4: intronic/intergenic
rs143457567	5	93353531	G>A	0.001	intron_variant	POLD2P1 - NR2F1-AS1	4e-13	Tier 4: intronic/intergenic
rs186997188	12	85262600	A>G	0.001	intergenic_variant	LRRIQ1	3e-12	Tier 4: intronic/intergenic
rs543470772	18	59555451	G>A	0	intron_variant	CCBE1	5e-12	Tier 4: intronic/intergenic
rs576348628	12	104558600	G>A	0	intron_variant	CHST11	6e-12	Tier 4: intronic/intergenic
rs529929509	12	41257546	C>T	0	intron_variant	PDZRN4	8e-12	Tier 4: intronic/intergenic
rs565728096	3	22779300	G>A,T	0	intergenic_variant	FCRL4P1 - RRBP1P2	9e-12	Tier 4: intronic/intergenic
rs532709505	7	21731853	G>A	0	intron_variant	DNAH11	1e-11	Tier 4: intronic/intergenic
rs118066617	13	110652103	C>T	0.001	intron_variant	CARS2	2e-11	Tier 4: intronic/intergenic
rs184027577	19	8014346	G>A,C	0.001	intron_variant	ELAVL1 - CCL25	2e-11	Tier 4: intronic/intergenic
rs116547528	3	184025234	A>G,T	0.001	intergenic_variant	ABCC5 - EEF1A1P8	2e-11	Tier 4: intronic/intergenic
rs190322680	10	115924789	T>G	0	intron_variant	ATRNL1	2e-11	Tier 4: intronic/intergenic
rs578227000	5	64538805	C>A,T	0	intron_variant	RGS7BP	3e-11	Tier 4: intronic/intergenic
rs939726630	8	3577563	G>A,C	0	intron_variant	CSMD1	3e-11	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.