Online Mendelian Inheritance in Man - KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620985 http://purl.bioontology.org/ontology/OMIM/620985
Preferred Name	KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME
Synonyms	KBHS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	KBHS
prefLabel	KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME
Gene Symbol	KBHS MSL2 KIAA1585
Scope Statement	Caused by mutation in the MSL complex subunit 2 gene (MSL2, 614802.0001) [MOLECULAR BASIS] Based on 4 patients with the recurrent 4-bp deletion (614802.0001) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU042548 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU002680 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU021250 http://purl.bioontology.org/ontology/OMIM/MTHU049263 http://purl.bioontology.org/ontology/OMIM/MTHU001157 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU068869 http://purl.bioontology.org/ontology/OMIM/MTHU079244 See more See less
tui	T047
Gene Locus	3q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620985
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5975476
OMIM Entry Type	3
OMIM MimType Value	pound

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