Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613073 http://purl.bioontology.org/ontology/OMIM/613073
Preferred Name	METAPHYSEAL ANADYSPLASIA 2
Synonyms	MANDP2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MANDP2
prefLabel	METAPHYSEAL ANADYSPLASIA 2
Gene Symbol	MMP9 MANDP2 CLG4B
Scope Statement	Caused by mutation in the matrix metalloproteinase 9 gene (MMP9, 120361.0001) [MOLECULAR BASIS] Spontaneous regression of metaphyseal irregularities with age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU074913 http://purl.bioontology.org/ontology/OMIM/MTHU074912 http://purl.bioontology.org/ontology/OMIM/MTHU003667 http://purl.bioontology.org/ontology/OMIM/MTHU000048 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000038 http://purl.bioontology.org/ontology/OMIM/MTHU001501 http://purl.bioontology.org/ontology/OMIM/MTHU037076 See more See less
tui	T047
Gene Locus	20q11.2-q13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613073
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2751322
OMIM Entry Type	3
OMIM MimType Value	pound

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