Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614671
http://purl.bioontology.org/ontology/OMIM/614671
Preferred Name

CHROMOSOME 16p11.2 DUPLICATION SYNDROME
Synonyms
AUTS14B
AUTISM, SUSCEPTIBILITY TO, 14B
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AUTS14B
AUTISM, SUSCEPTIBILITY TO, 14B
prefLabel
CHROMOSOME 16p11.2 DUPLICATION SYNDROME
Gene Symbol
C16DUPp11.2
AUTS14B
DUP16p11.2
Scope Statement
A contiguous gene syndrome caused by a 555-kb duplication of 16p11.2 [MOLECULAR BASIS]
Phenotypic variability [MISCELLANEOUS]
16p11.2 duplications can be associated with a normal phenotype [MISCELLANEOUS]
16p11.2 duplications can be de novo or inherited [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU078343
http://purl.bioontology.org/ontology/OMIM/MTHU004435
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU078340
http://purl.bioontology.org/ontology/OMIM/MTHU078342
http://purl.bioontology.org/ontology/OMIM/MTHU015654
http://purl.bioontology.org/ontology/OMIM/MTHU036661
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU078341
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU004142
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU053021
http://purl.bioontology.org/ontology/OMIM/MTHU000940
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tui
T047
T033
Gene Locus
16p11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614671
Semantic type UMLS property
Has inheritance type
cui
C3553408
C3553407
OMIM Entry Type
3
OMIM MimType Value
pound
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