Disease #02970 (OI7 (osteogenesis imperfecta, type VII (OI7)), OMIM:610682)

Official abbreviation OI7
Name osteogenesis imperfecta, type VII (OI7)
OMIM ID 610682
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene CRTAP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-05-16 21:53:30 +02:00 (CEST)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00081014 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - OI7 Osteogenesis imperfecta, type VII (OMIM:610682) CRTAP CRTAP 1 1 Daniel Trujillano
00372590 - PubMed: Xu 2019 - - - China Han - - - - OI7 - BMP1 BMP1 2 1 Raymond Dalgleish
00410179 Pat2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 - F yes Thailand - - - - - OI7 Dentinogenesis imperfecta (HP:0000703), Blue sclerae (HP:0000592), Brachycephaly (HP:0000248), Macrocephaly (HP:0000256) CRTAP CRTAP 2 1 Thanakorn Theerapanon
00435092 Pat1 PubMed: Udupa 2023 A 20-week-old male fetus showed bone developmental abnormalities. The fetus was medically aborted.  M yes ? (unknown) - 00y00m - - - OI7 - CRTAP CRTAP 1 1 Kim Worring
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