Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615668
http://purl.bioontology.org/ontology/OMIM/615668
Preferred Name

CHROMOSOME 5q12 DELETION SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

prefLabel
CHROMOSOME 5q12 DELETION SYNDROME
Gene Symbol
C5DELq12
DEL5q12
Scope Statement
Contiguous gene syndrome involving deletion of 2.63 Mb on chromosome 5q12 [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU036341
http://purl.bioontology.org/ontology/OMIM/MTHU003384
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU007281
http://purl.bioontology.org/ontology/OMIM/MTHU046808
http://purl.bioontology.org/ontology/OMIM/MTHU008495
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU035437
http://purl.bioontology.org/ontology/OMIM/MTHU030363
http://purl.bioontology.org/ontology/OMIM/MTHU017627
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU000166
http://purl.bioontology.org/ontology/OMIM/MTHU010787
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU007296
http://purl.bioontology.org/ontology/OMIM/MTHU004645
http://purl.bioontology.org/ontology/OMIM/MTHU006914
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
5q12
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615668
Semantic type UMLS property
Has inheritance type
cui
C3810282
OMIM Entry Type
3
OMIM MimType Value
pound
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