Online Mendelian Inheritance in Man - KNOBLOCH SYNDROME 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618458 http://purl.bioontology.org/ontology/OMIM/618458
Preferred Name	KNOBLOCH SYNDROME 2
Synonyms	KNO2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	KNO2
prefLabel	KNOBLOCH SYNDROME 2
Gene Symbol	KNO2 PAK65 PAK2
Scope Statement	Caused by mutation in the p21 protein-activated kinase-2 gene (PAK2, 605022) [MOLECULAR BASIS] Based on report of 2 affected brothers with marked variability in severity of developmental delay (last curated July 2022) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002188 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU075975 http://purl.bioontology.org/ontology/OMIM/MTHU075966 http://purl.bioontology.org/ontology/OMIM/MTHU037029 http://purl.bioontology.org/ontology/OMIM/MTHU037190 http://purl.bioontology.org/ontology/OMIM/MTHU075970 http://purl.bioontology.org/ontology/OMIM/MTHU075972 http://purl.bioontology.org/ontology/OMIM/MTHU075967 http://purl.bioontology.org/ontology/OMIM/MTHU036393 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU075968 http://purl.bioontology.org/ontology/OMIM/MTHU075976 http://purl.bioontology.org/ontology/OMIM/MTHU011094 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU004240 http://purl.bioontology.org/ontology/OMIM/MTHU075974 http://purl.bioontology.org/ontology/OMIM/MTHU075964 http://purl.bioontology.org/ontology/OMIM/MTHU075971 http://purl.bioontology.org/ontology/OMIM/MTHU075969 http://purl.bioontology.org/ontology/OMIM/MTHU002185 http://purl.bioontology.org/ontology/OMIM/MTHU062789 http://purl.bioontology.org/ontology/OMIM/MTHU070126 http://purl.bioontology.org/ontology/OMIM/MTHU017081 http://purl.bioontology.org/ontology/OMIM/MTHU011828 http://purl.bioontology.org/ontology/OMIM/MTHU075965 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	3q29
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618458
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5676897
OMIM Entry Type	3
OMIM MimType Value	pound

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