Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/606242 http://purl.bioontology.org/ontology/OMIM/606242
Preferred Name	KONDOH SYNDROME
Synonyms	MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM
prefLabel	KONDOH SYNDROME
Gene Symbol	KONDS
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU004092 http://purl.bioontology.org/ontology/OMIM/MTHU004090 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU004089 http://purl.bioontology.org/ontology/OMIM/MTHU004084 http://purl.bioontology.org/ontology/OMIM/MTHU004085 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU004086 http://purl.bioontology.org/ontology/OMIM/MTHU004088 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU004087 http://purl.bioontology.org/ontology/OMIM/MTHU004091 See more See less
tui	T047
Gene Locus	1p36.32-p35.3
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	606242
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1853480
OMIM Entry Type	5
OMIM MimType Value	perc

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