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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618905
http://purl.bioontology.org/ontology/OMIM/618905
|
|---|---|
| Preferred Name | SILVER-RUSSELL SYNDROME 2 |
| Synonyms |
UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 7
SRS2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 7
SRS2
|
|---|---|
| prefLabel | SILVER-RUSSELL SYNDROME 2
|
| Gene Symbol | SRS2
|
| Scope Statement | Contiguous gene syndrome caused by deletion of paternal allele on chromosome 7 [MOLECULAR BASIS]
Approximately 10% SRS patients have maternal UPD7 [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui |
T049
T047
|
| Gene Locus | 7p13-q32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618905
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5400127
C5394446
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |