Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620690 http://purl.bioontology.org/ontology/OMIM/620690
Preferred Name	DEVELOPMENTAL DYSPLASIA OF THE HIP 3
Synonyms	DDH3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DDH3
prefLabel	DEVELOPMENTAL DYSPLASIA OF THE HIP 3
Gene Symbol	DDH3 KPA A2MR LRP1
Scope Statement	Caused by mutation in the low density lipoprotein receptor-related protein-1 (LRP1, 107770.0005) [MOLECULAR BASIS] Based on a report with minimal clinical details (last curated January 2024) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU078113 http://purl.bioontology.org/ontology/OMIM/MTHU078112 http://purl.bioontology.org/ontology/OMIM/MTHU078114
tui	T047
Gene Locus	12q13.1-q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620690
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5882750
OMIM Entry Type	3
OMIM MimType Value	pound

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