Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Osteogenesis Imperfecta Type III
Synonyms
Definitions	A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.
ID	http://purl.obolibrary.org/obo/NCIT_C99002
code	C99002
Contributing_Source	Cellosaurus NICHD
definition	A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C99147
label	Osteogenesis Imperfecta Type III
Preferred_Name	Osteogenesis Imperfecta Type III
prefixIRI	NCIT:C99002
prefLabel	Osteogenesis Imperfecta Type III
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0268362
subClassOf	http://purl.obolibrary.org/obo/NCIT_C26837

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/385483009	SNOMEDCT	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14900	DERMLEX	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta_Type_III	PEDTERM	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG51500	RCTV2	LOOM
http://purl.bioontology.org/ontology/OMIM/259420	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta_Type_III	CSEO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99002	NCIT	LOOM