Online Mendelian Inheritance in Man - ACROCALLOSAL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/200990 http://purl.bioontology.org/ontology/OMIM/200990
Preferred Name	ACROCALLOSAL SYNDROME
Synonyms	SCHINZEL ACROCALLOSAL SYNDROME JBTS12 HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM JOUBERT SYNDROME 12/15, DIGENIC ACLS JOUBERT SYNDROME 12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCHINZEL ACROCALLOSAL SYNDROME JBTS12 HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM JOUBERT SYNDROME 12/15, DIGENIC ACLS JOUBERT SYNDROME 12 See more See less
prefLabel	ACROCALLOSAL SYNDROME
Gene Symbol	AGBK ACLS JBTS12 HLS2 KIF7
Scope Statement	Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0001) [MOLECULAR BASIS] Variable phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU031558 http://purl.bioontology.org/ontology/OMIM/MTHU007485 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU002155 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU014808 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU014810 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU014806 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU067453 http://purl.bioontology.org/ontology/OMIM/MTHU014812 http://purl.bioontology.org/ontology/OMIM/MTHU001447 http://purl.bioontology.org/ontology/OMIM/MTHU002599 http://purl.bioontology.org/ontology/OMIM/MTHU004211 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU004601 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000261 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU001450 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU009601 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU014813 http://purl.bioontology.org/ontology/OMIM/MTHU007034 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU008870 http://purl.bioontology.org/ontology/OMIM/MTHU036404 http://purl.bioontology.org/ontology/OMIM/MTHU036423 http://purl.bioontology.org/ontology/OMIM/MTHU014809 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000094 http://purl.bioontology.org/ontology/OMIM/MTHU014807 http://purl.bioontology.org/ontology/OMIM/MTHU012405 See more See less
tui	T047
Gene Locus	15q26.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	200990
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2931760 C3277723 C0796147 C3280899
OMIM Entry Type	3
OMIM MimType Value	pound

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