National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Osteogenesis Imperfecta Type I
Synonyms	Osteogenesis Imperfecta Type I
Definitions	The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99003
code	C99003
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	Cellosaurus NICHD
DEFINITION	The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
FULL_SYN	Osteogenesis Imperfecta Type I
label	Osteogenesis Imperfecta Type I
Preferred_Name	Osteogenesis Imperfecta Type I
prefixIRI	Thesaurus:C99003
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0023931
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C99003	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/385482004	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/166200	OMIM	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta_Type_I	PEDTERM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta_Type_I	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_14708	CLO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG51300	RCTV2	LOOM
http://purl.bioontology.org/ontology/RCD/PG513	RCD	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14899	DERMLEX	LOOM