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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601224
http://purl.bioontology.org/ontology/OMIM/601224
|
|---|---|
| Preferred Name | POTOCKI-SHAFFER SYNDROME |
| Synonyms |
DEFECT11 SYNDROME
P11pDS
CHROMOSOME 11p11.2 DELETION SYNDROME
PSS
PROXIMAL 11p DELETION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEFECT11 SYNDROME
P11pDS
CHROMOSOME 11p11.2 DELETION SYNDROME
PSS
PROXIMAL 11p DELETION SYNDROME
|
|---|---|
| prefLabel | POTOCKI-SHAFFER SYNDROME
|
| Gene Symbol | PSS
|
| Scope Statement | Contiguous gene syndrome caused by deletion of 2.1 Mb on chromosome 11p12-p11.2 [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 601224
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1832588
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |