Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

OSTEOGENESIS IMPERFECTA, TYPE IV
Synonyms

OI4

OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE

OI, TYPE IV
ID

http://purl.bioontology.org/ontology/OMIM/166220
altLabel

OI4

OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE

OI, TYPE IV
cui

C0268363
Gene Locus

7q22.1
Gene Symbol

EDSCV

EDSARTH2

COL1A2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU016486

http://purl.bioontology.org/ontology/OMIM/MTHU016485

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU016483

http://purl.bioontology.org/ontology/OMIM/MTHU016489

http://purl.bioontology.org/ontology/OMIM/MTHU067325

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU016487

http://purl.bioontology.org/ontology/OMIM/MTHU016482

http://purl.bioontology.org/ontology/OMIM/MTHU000033

http://purl.bioontology.org/ontology/OMIM/MTHU016484

http://purl.bioontology.org/ontology/OMIM/MTHU036675

http://purl.bioontology.org/ontology/OMIM/MTHU016488
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

166220
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OSTEOGENESIS IMPERFECTA, TYPE IV
Scope Statement

Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0003) [MOLECULAR BASIS]

Often identified in newborn period [MISCELLANEOUS]

Fractures decrease after puberty but increase after menopause [MISCELLANEOUS]

Fractures occur in first few months, then decrease in frequency and then occur with ambulation [MISCELLANEOUS]

Fractures can occur in utero, during labor and delivery, or in newborn period [MISCELLANEOUS]

Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0004) [MOLECULAR BASIS]
tui

T047

T019
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