Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618463 http://purl.bioontology.org/ontology/OMIM/618463
Preferred Name	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
Synonyms	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL RECESSIVE APOLIPOPROTEIN A-I DEFICIENCY HIGH DENSITY LIPOPROTEIN DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL RECESSIVE APOLIPOPROTEIN A-I DEFICIENCY HIGH DENSITY LIPOPROTEIN DEFICIENCY
prefLabel	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
Gene Symbol	AMYLD3 APOA1 HPALP2
Scope Statement	Caused by mutation in apolipoprotein A-I (APOA1, 107680.0014) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008097 http://purl.bioontology.org/ontology/OMIM/MTHU063651 http://purl.bioontology.org/ontology/OMIM/MTHU014581 http://purl.bioontology.org/ontology/OMIM/MTHU002067 http://purl.bioontology.org/ontology/OMIM/MTHU075046 http://purl.bioontology.org/ontology/OMIM/MTHU012701 http://purl.bioontology.org/ontology/OMIM/MTHU075045 http://purl.bioontology.org/ontology/OMIM/MTHU072669 http://purl.bioontology.org/ontology/OMIM/MTHU036909 http://purl.bioontology.org/ontology/OMIM/MTHU009306 http://purl.bioontology.org/ontology/OMIM/MTHU075044 See more See less
tui	T047
Gene Locus	11q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618463
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5551172
OMIM Entry Type	3
OMIM MimType Value	pound

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