Online Mendelian Inheritance in Man - HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 - Classes

Preferred Name	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
Synonyms	FHBL1
ID	http://purl.bioontology.org/ontology/OMIM/615558
altLabel	FHBL1 HYPOBETALIPOPROTEINEMIA, FAMILIAL ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA FHBL HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
cui	C1862596
Gene Locus	2p24
Gene Symbol	FLDB LDLCQ4 APOB
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU019463 http://purl.bioontology.org/ontology/OMIM/MTHU022197 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU019462 http://purl.bioontology.org/ontology/OMIM/MTHU019468 http://purl.bioontology.org/ontology/OMIM/MTHU042117 http://purl.bioontology.org/ontology/OMIM/MTHU019464 http://purl.bioontology.org/ontology/OMIM/MTHU044634 http://purl.bioontology.org/ontology/OMIM/MTHU004856 http://purl.bioontology.org/ontology/OMIM/MTHU044635
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615558
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
tui	T047

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/ICD10CM/E78.6	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/MESH/C566267	Medical Subject Headings	CUI