osteogenesis imperfecta

Term ID

DOID:12347

Synonyms

brittle bone disease
Fragilitas ossium
Lobstein's syndrome
Osteopsathyrosis
Vrolik's disease

Definition

An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (6)

References

GARD:1017
ICD10CM:Q78.0
ICD9CM:756.51
MESH:D010013
NCI:C26837
OMIM:PS166200
ORDO:666
SNOMEDCT_US_2023_03_01:254109004
UMLS_CUI:C0029434

Ontology

Human Disease ( DOID:12347 )

Relationships

is a type of: osteochondrodysplasia

osteochondrodysplasia Show first 5 Terms
has subtype: Cole-Carpenter syndrome osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 ... Show All 23 Terms

Cole-Carpenter syndrome osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 18 osteogenesis imperfecta type 19 osteogenesis imperfecta type 20 osteogenesis imperfecta type 21 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models

Citations