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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/312830
http://purl.bioontology.org/ontology/OMIM/312830
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|---|---|
| Preferred Name | SCARF SYNDROME |
| Synonyms |
SKELETAL ABNORMALITIES, CUTIS LAXA, CRANIOSTENOSIS, AMBIGUOUS GENITALIA, RETARDATION, AND FACIAL ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SKELETAL ABNORMALITIES, CUTIS LAXA, CRANIOSTENOSIS, AMBIGUOUS GENITALIA, RETARDATION, AND FACIAL ABNORMALITIES
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|---|---|
| prefLabel | SCARF SYNDROME
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| Scope Statement | SCARF is an acronym - Skeletal abnormalities, Cutis laxa/craniosynostosis, Ambiguous genitalia, Retardation, and Facial abnormalities [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| MIMTYPEMEANING | Other, mainly phenotypes with suspected mendelian basis
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| notation | 312830
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1839321
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| OMIM Entry Type | 0
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| OMIM MimType Value | none
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| Delete | Subject | Author | Type | Created |
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| No notes to display |