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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616171
http://purl.bioontology.org/ontology/OMIM/616171
|
|---|---|
| Preferred Name | MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 |
| Synonyms |
MCCRP2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MCCRP2
|
|---|---|
| prefLabel | MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
|
| Gene Symbol |
STK18
PLK4
SAK
MCCRP2
|
| Scope Statement | Caused by mutation in the polo-like kinase 4 gene (PLK4, 605031.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 4q27-q28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616171
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4015388
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |