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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618336
http://purl.bioontology.org/ontology/OMIM/618336
|
|---|---|
| Preferred Name | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY |
| Synonyms |
IMAGEI
IMAGEI SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
IMAGEI
IMAGEI SYNDROME
|
|---|---|
| prefLabel | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
|
| Gene Symbol |
CRCS12
FILS
IMAGEI
POLE
|
| Scope Statement | Caused by mutation in the epsilon DNA polymerase (POLE, 174762.0003) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q24.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618336
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193036
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |