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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612918
http://purl.bioontology.org/ontology/OMIM/612918
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|---|---|
| Preferred Name | CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI |
| Synonyms |
CLOVES SYNDROME
CLOVE SYNDROME
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CLOVES SYNDROME
CLOVE SYNDROME
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
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|---|---|
| prefLabel | CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
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| Gene Symbol |
CWS5
MCAP
MCMTC
CCM4
PIK3CA
HMH
MCM
CLOVE
CLAPO
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| Scope Statement | CLOVE - Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal nevi [MISCELLANEOUS]
Caused by postzygotic somatic mosaic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 3q26.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 612918
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2752042
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |