FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

osteogenesis imperfecta type 3

Synonyms
Definitions

An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

ID

http://purl.obolibrary.org/obo/DOID_0110339

definition

An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

osteogenesis imperfecta type 3

prefixIRI

DOID:0110339

prefLabel

osteogenesis imperfecta type 3

subClassOf

http://purl.obolibrary.org/obo/DOID_12347

http://purl.obolibrary.org/obo/DOID_0050736

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