loading...| Preferred Name | osteogenesis imperfecta | |
| Synonyms |
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| Definitions |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12347 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| definition |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
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| hasAlternativeId |
DOID:14708 |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:205498009 SNOMEDCT_US_2016_03_01:254108007 SNOMEDCT_US_2016_03_01:254106006 SNOMEDCT_US_2016_03_01:3508009 NCI:C99003 ORDO:666 OMIM:PS166200 SNOMEDCT_US_2016_03_01:205492005 SNOMEDCT_US_2016_03_01:78314001 SNOMEDCT_US_2016_03_01:205494006 SNOMEDCT_US_2016_03_01:254105005 UMLS_CUI:C0029434 ICD10CM:Q78.0 UMLS_CUI:C0023931 SNOMEDCT_US_2016_03_01:385482004 SNOMEDCT_US_2016_03_01:157008000 ICD9CM:756.51 SNOMEDCT_US_2016_03_01:254109004 NCI:C26837 MESH:D010013 SNOMEDCT_US_2016_03_01:205493000 SNOMEDCT_US_2016_03_01:254107002 SNOMEDCT_US_2016_03_01:268352002 |
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| hasExactSynonym |
Lobstein's syndrome brittle bone disease Osteopsathyrosis Vrolik's disease |
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| hasOBONamespace |
disease_ontology |
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| hasRelatedSynonym |
Fragilitas ossium |
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| id |
DOID:12347 |
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| imported from | ||
| inSubset | ||
| label |
osteogenesis imperfecta |
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| prefixIRI |
DOID:12347 |
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| prefLabel |
osteogenesis imperfecta |
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| subClassOf |