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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614541
http://purl.bioontology.org/ontology/OMIM/614541
|
|---|---|
| Preferred Name | CHROMOSOME 16q22 DELETION SYNDROME |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | CHROMOSOME 16q22 DELETION SYNDROME
|
|---|---|
| Gene Symbol |
C16DELq22
DEL16q22
|
| Scope Statement | Contiguous gene deletion syndrome [MISCELLANEOUS]
A contiguous gene syndrome caused by deletion of chromosome 16q22 including the CBFB gene (121360) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614541
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3281152
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |