Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619073 http://purl.bioontology.org/ontology/OMIM/619073
Preferred Name	VITAMIN D-DEPENDENT RICKETS, TYPE 3
Synonyms	VDDR3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VDDR3
prefLabel	VITAMIN D-DEPENDENT RICKETS, TYPE 3
Gene Symbol	CYP3A4 VDDR3
Scope Statement	Onset in early childhood [MISCELLANEOUS] Based on report of 2 unrelated girls (last curated October 2020) [MISCELLANEOUS] Caused by mutation in the cytochrome P450, subfamily IIIA, polypeptide-4 gene (CYP3A4, 124010.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010336 http://purl.bioontology.org/ontology/OMIM/MTHU072186 http://purl.bioontology.org/ontology/OMIM/MTHU036874 http://purl.bioontology.org/ontology/OMIM/MTHU072182 http://purl.bioontology.org/ontology/OMIM/MTHU023246 http://purl.bioontology.org/ontology/OMIM/MTHU072181 http://purl.bioontology.org/ontology/OMIM/MTHU072187 http://purl.bioontology.org/ontology/OMIM/MTHU072185 http://purl.bioontology.org/ontology/OMIM/MTHU072183 http://purl.bioontology.org/ontology/OMIM/MTHU072184 http://purl.bioontology.org/ontology/OMIM/MTHU001720 See more See less
tui	T047
Gene Locus	7q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619073
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436733
OMIM Entry Type	3
OMIM MimType Value	pound

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