Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615969 http://purl.bioontology.org/ontology/OMIM/615969
Preferred Name	ALPHA-FETOPROTEIN DEFICIENCY
Synonyms	AFPD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AFPD
prefLabel	ALPHA-FETOPROTEIN DEFICIENCY
Gene Symbol	AFP HPAFP AFPD
Scope Statement	Benign condition [MISCELLANEOUS] Major fetal plasma protein produced by yolk sac and liver [MISCELLANEOUS] Caused by mutation in the alpha-fetoprotein gene (AFP, 104150.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU051133
tui	T047
Gene Locus	4q11-q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615969
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1863081
OMIM Entry Type	3
OMIM MimType Value	pound

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