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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/244300
http://purl.bioontology.org/ontology/OMIM/244300
|
|---|---|
| Preferred Name | KAPUR-TORIELLO SYNDROME |
| Synonyms |
LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINAL ANOMALIES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINAL ANOMALIES
|
|---|---|
| prefLabel | KAPUR-TORIELLO SYNDROME
|
| 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 | 244300
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796005
|
| OMIM Entry Type | 5
|
| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |