Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

OSTEOGENESIS IMPERFECTA, TYPE III
Synonyms

OI, TYPE III

OI3

OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
ID

http://purl.bioontology.org/ontology/OMIM/259420
altLabel

OI, TYPE III

OI3

OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
cui

C0268362
Gene Locus

7q22.1
Gene Symbol

EDSCV

EDSARTH2

COL1A2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU010374

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU010372

http://purl.bioontology.org/ontology/OMIM/MTHU000229

http://purl.bioontology.org/ontology/OMIM/MTHU010376

http://purl.bioontology.org/ontology/OMIM/MTHU009334

http://purl.bioontology.org/ontology/OMIM/MTHU002225

http://purl.bioontology.org/ontology/OMIM/MTHU010375

http://purl.bioontology.org/ontology/OMIM/MTHU000044

http://purl.bioontology.org/ontology/OMIM/MTHU008699

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU010377

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

http://purl.bioontology.org/ontology/OMIM/MTHU004141

http://purl.bioontology.org/ontology/OMIM/MTHU010370

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

http://purl.bioontology.org/ontology/OMIM/MTHU010369

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

http://purl.bioontology.org/ontology/OMIM/MTHU010366

http://purl.bioontology.org/ontology/OMIM/MTHU037817

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

http://purl.bioontology.org/ontology/OMIM/MTHU001501

http://purl.bioontology.org/ontology/OMIM/MTHU010368

http://purl.bioontology.org/ontology/OMIM/MTHU010378

http://purl.bioontology.org/ontology/OMIM/MTHU010371

http://purl.bioontology.org/ontology/OMIM/MTHU010373

http://purl.bioontology.org/ontology/OMIM/MTHU010367
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

259420
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OSTEOGENESIS IMPERFECTA, TYPE III
Scope Statement

Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0005) [MOLECULAR BASIS]

Some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents [MISCELLANEOUS]

Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0005) [MOLECULAR BASIS]
tui

T047
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