Online Mendelian Inheritance in Man - LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618325 http://purl.bioontology.org/ontology/OMIM/618325
Preferred Name	LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
Synonyms	LIS9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LIS9
prefLabel	LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
Gene Symbol	ACF7 LIS9 MACF1 KIAA1251
Scope Statement	Caused by mutation in the microtubule-actin cross-linking factor 1 gene (MACF1, 608271.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] De novo mutation [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064174 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU064189 http://purl.bioontology.org/ontology/OMIM/MTHU004128 http://purl.bioontology.org/ontology/OMIM/MTHU064183 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU064188 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU070638 http://purl.bioontology.org/ontology/OMIM/MTHU003768 http://purl.bioontology.org/ontology/OMIM/MTHU064186 http://purl.bioontology.org/ontology/OMIM/MTHU064184 http://purl.bioontology.org/ontology/OMIM/MTHU056438 http://purl.bioontology.org/ontology/OMIM/MTHU064187 http://purl.bioontology.org/ontology/OMIM/MTHU064180 http://purl.bioontology.org/ontology/OMIM/MTHU000574 http://purl.bioontology.org/ontology/OMIM/MTHU064191 http://purl.bioontology.org/ontology/OMIM/MTHU044170 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU064193 http://purl.bioontology.org/ontology/OMIM/MTHU064190 http://purl.bioontology.org/ontology/OMIM/MTHU064185 http://purl.bioontology.org/ontology/OMIM/MTHU005282 See more See less
tui	T047
Gene Locus	1p32-p31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618325
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5193029
OMIM Entry Type	3
OMIM MimType Value	pound

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