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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/218040
http://purl.bioontology.org/ontology/OMIM/218040
|
|---|---|
| Preferred Name | COSTELLO SYNDROME |
| Synonyms |
CMEMS
CSTLO
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
FACIOCUTANEOSKELETAL SYNDROME
FCS SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMEMS
CSTLO
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
FACIOCUTANEOSKELETAL SYNDROME
FCS SYNDROME
|
|---|---|
| prefLabel | COSTELLO SYNDROME
|
| Gene Symbol | HRAS
|
| Scope Statement | Phenotypic overlap with Noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) [MISCELLANEOUS]
Associated with advanced paternal age [MISCELLANEOUS]
Characteristic facial features become more apparent with age [MISCELLANEOUS]
Sudden death [MISCELLANEOUS]
Caused by mutation in the V-Ha-RAS Harvey rat sarcoma viral oncogene homolog gene (HRAS, 190020.0001) [MOLECULAR BASIS]
De novo mutation in most cases [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 11p15.5
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 218040
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1968782
C0587248
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |