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osteogenesis imperfecta type 12
(Q27677746)
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From Wikidata
osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13
OI12
osteogenesis imperfecta type XII
OSTEOGENESIS IMPERFECTA, TYPE XII
OI, Type 12
OSTEOGENESIS IMPERFECTA, TYPE XII; OI12
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Description
Also known as
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English
osteogenesis imperfecta type 12
osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13
OI12
osteogenesis imperfecta type XII
OSTEOGENESIS IMPERFECTA, TYPE XII
OI, Type 12
OSTEOGENESIS IMPERFECTA, TYPE XII; OI12
Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
osteogenesis imperfecta
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110348
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110348
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110348
health specialty
medical genetics
0 references
genetic association
SP7
2 references
stated in
UniProt
UniProt protein ID
Q8TDD2
retrieved
13 August 2019
stated in
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110348
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110348
http://identifiers.org/doid/DOID:0110348
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0110348
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0110348
ICD-10-CM
Q78.0
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110348
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013460
Mondo ID
MONDO_0013460
0 references
OMIM ID
613849
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110348
613849
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013460
Orphanet ID
216820
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013460
UMLS CUI
C3151433
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013460
UniProt disease ID
DI-03173
0 references
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osteogenesis imperfecta type 12
(Q27677746)
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