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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613355
http://purl.bioontology.org/ontology/OMIM/613355
|
|---|---|
| Preferred Name | CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
|
|---|---|
| Gene Symbol |
DEL17q23.1q23.2
C17DELq23.1q23.2
|
| Scope Statement | Contiguous gene syndrome caused by deletion (2.2 Mb) of chromosome 17q23.1-q23 [MOLECULAR BASIS]
7 unrelated patients have been reported [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q23.1-q23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613355
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150607
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |