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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/259050
http://purl.bioontology.org/ontology/OMIM/259050
|
|---|---|
| Preferred Name | PRIMROSE SYNDROME |
| Synonyms |
PRIMS
OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PRIMS
OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES
|
|---|---|
| prefLabel | PRIMROSE SYNDROME
|
| Gene Symbol |
DPZF
ZNF288
ZBTB20
PRIMS
|
| Scope Statement | Caused by mutation in the zinc finger and BTB-domain containing 20 gene (ZBTB20, 606025.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q13.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 259050
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796121
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |