Online Mendelian Inheritance in Man - OSTEOGENESIS IMPERFECTA, TYPE III - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	OSTEOGENESIS IMPERFECTA, TYPE III
Synonyms	OI, TYPE III
ID	http://purl.bioontology.org/ontology/OMIM/259420
altLabel	OI, TYPE III OI3 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
cui	C0268362
Gene Locus	7q22.1
Gene Symbol	EDSCV EDSARTH2 COL1A2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010374 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU010372 http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU010376 http://purl.bioontology.org/ontology/OMIM/MTHU009334 http://purl.bioontology.org/ontology/OMIM/MTHU002225 http://purl.bioontology.org/ontology/OMIM/MTHU010375 http://purl.bioontology.org/ontology/OMIM/MTHU000044 http://purl.bioontology.org/ontology/OMIM/MTHU008699 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU010377 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU004141 http://purl.bioontology.org/ontology/OMIM/MTHU010370 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU010369 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU010366 http://purl.bioontology.org/ontology/OMIM/MTHU037817 http://purl.bioontology.org/ontology/OMIM/MTHU000033 http://purl.bioontology.org/ontology/OMIM/MTHU001501 http://purl.bioontology.org/ontology/OMIM/MTHU010368 http://purl.bioontology.org/ontology/OMIM/MTHU010378 http://purl.bioontology.org/ontology/OMIM/MTHU010371 http://purl.bioontology.org/ontology/OMIM/MTHU010373 http://purl.bioontology.org/ontology/OMIM/MTHU010367
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	259420
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	OSTEOGENESIS IMPERFECTA, TYPE III
Scope Statement	Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0005) [MOLECULAR BASIS] Some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents [MISCELLANEOUS] Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0005) [MOLECULAR BASIS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNOMEDCT/385483009	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SCTSPA/385483009	SCTSPA	CUI
	http://purl.bioontology.org/ontology/RCD/PG515	RCD	CUI
	http://purl.bioontology.org/ontology/SNMI/D6-90530	SNMI	CUI
	http://purl.bioontology.org/ontology/MESH/C536044	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/385483009	SNOMEDCT	LOOM
	http://purl.obolibrary.org/obo/NCIT_C99002	BERO	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://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