Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609637 http://purl.bioontology.org/ontology/OMIM/609637
Preferred Name	HOLOPROSENCEPHALY 5
Synonyms	HPE5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HPE5
prefLabel	HOLOPROSENCEPHALY 5
Gene Symbol	ZIC2 HPE5
Scope Statement	High occurrence of de novo mutations [MISCELLANEOUS] Caused by mutation in the zinc finger protein of cerebellum 2 gene (ZIC2, 603073.0001) [MOLECULAR BASIS] Subtle facial phenotype compared to other types of HPE [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048953 http://purl.bioontology.org/ontology/OMIM/MTHU068706 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU000253 http://purl.bioontology.org/ontology/OMIM/MTHU013513 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU007254 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU015010 http://purl.bioontology.org/ontology/OMIM/MTHU068705 http://purl.bioontology.org/ontology/OMIM/MTHU000264 http://purl.bioontology.org/ontology/OMIM/MTHU001746 See more See less
tui	T047
Gene Locus	13q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609637
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1864827
OMIM Entry Type	3
OMIM MimType Value	pound

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