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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/604314
http://purl.bioontology.org/ontology/OMIM/604314
|
|---|---|
| Preferred Name | BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND IMPAIRED INTELLECTUAL DEVELOPMENT |
| Synonyms |
BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE
|
|---|---|
| prefLabel | BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND IMPAIRED INTELLECTUAL DEVELOPMENT
|
| Scope Statement | Based on reports of 2 families (last curated May 2013) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
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| notation | 604314
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1858538
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| OMIM Entry Type | 5
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| OMIM MimType Value | perc
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| Delete | Subject | Author | Type | Created |
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| No notes to display |