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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613457
http://purl.bioontology.org/ontology/OMIM/613457
|
|---|---|
| Preferred Name | CHROMOSOME 14q11-q22 DELETION SYNDROME |
| Synonyms |
ZAHIR-FRIEDMAN SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ZAHIR-FRIEDMAN SYNDROME
|
|---|---|
| prefLabel | CHROMOSOME 14q11-q22 DELETION SYNDROME
|
| Gene Symbol |
C14DELq11q22
DEL14q11q22
|
| Scope Statement | Deletions occur de novo [MISCELLANEOUS]
Contiguous gene deletion syndrome [MISCELLANEOUS]
A contiguous gene syndrome caused by deletion of 2.0-30.0 Mb on chromosome 14q11-q22 [MOLECULAR BASIS]
Variable features [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q11-q22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613457
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150707
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |