Online Mendelian Inheritance in Man - LI-CAMPEAU SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619189 http://purl.bioontology.org/ontology/OMIM/619189
Preferred Name	LI-CAMPEAU SYNDROME
Synonyms	LICAS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LICAS
prefLabel	LI-CAMPEAU SYNDROME
Gene Symbol	LICAS UBR7
Scope Statement	Caused by mutation in the ubiquitin protein ligase E3 component N-recognin 7 gene (UBR7, 613816.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Variable features [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005726 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU007485 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU004092 http://purl.bioontology.org/ontology/OMIM/MTHU070658 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU051067 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU001420 http://purl.bioontology.org/ontology/OMIM/MTHU004589 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU007202 http://purl.bioontology.org/ontology/OMIM/MTHU016369 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU005305 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU049263 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU003214 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU004645 http://purl.bioontology.org/ontology/OMIM/MTHU002670 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	14q32.12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619189
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5543068
OMIM Entry Type	3
OMIM MimType Value	pound

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