(Q27677747)

English

osteogenesis imperfecta type 9

osteogenesis imperfecta that has material basis in mutation in the PPIB gene on chromosome 15q22

OI9
osteogenesis imperfecta type IX
Oi, Type 9
OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
OSTEOGENESIS IMPERFECTA, TYPE IX

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

osteogenesis imperfecta

1 reference

29 November 2021

1 reference

15 May 2019

autosomal recessive disease

1 reference

29 November 2021

0 references

2 references

13 August 2019

PPIB mutations cause severe osteogenesis imperfecta

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0110349

1 reference

29 November 2021

http://identifiers.org/doid/DOID:0110349

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C564921

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

29 November 2021

1 reference

28 August 2019

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q27677747)

osteogenesis imperfecta type 9

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