Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

disease
On this page

Summary

Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures (MONDO:0008149) is a disease. A subtype of osteogenesis imperfecta type 1 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameosteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
Mondo IDMONDO:0008149
MeSHC563487
OMIM166230
DOIDDOID:0110335
UMLSC1833748
MedGen331579
GARD0015100
Is cancer (heuristic)no

Disease family

This is a subtype of osteogenesis imperfecta type 1. 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: human disease › disease by body system or component › musculoskeletal system disorderskeletal system disorderbone disorderbone development diseaseosteochondrodysplasiaosteogenesis imperfectaosteogenesis imperfecta and a reduction of bone mineral density.osteogenesis imperfecta type 1osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.