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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/268300
http://purl.bioontology.org/ontology/OMIM/268300
|
|---|---|
| Preferred Name | ROBERTS-SC PHOCOMELIA SYNDROME |
| Synonyms |
ROBERTS SYNDROME
SC PSEUDOTHALIDOMIDE SYNDROME
SC PHOCOMELIA SYNDROME
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
RBS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ROBERTS SYNDROME
SC PSEUDOTHALIDOMIDE SYNDROME
SC PHOCOMELIA SYNDROME
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
RBS
|
|---|---|
| prefLabel | ROBERTS-SC PHOCOMELIA SYNDROME
|
| Gene Symbol |
JHS
RBS
ESCO2
|
| Scope Statement | Polyhydramnios [MISCELLANEOUS]
Caused by mutation in the establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, 609353.0001) [MOLECULAR BASIS]
Presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8p21.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 268300
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0392475
|
| Moved from | 269000
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |