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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/309583
http://purl.bioontology.org/ontology/OMIM/309583
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE |
| Synonyms |
SNYDER-ROBINSON MENTAL RETARDATION SYNDROME
MRXSSR
SRS
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SNYDER-ROBINSON MENTAL RETARDATION SYNDROME
MRXSSR
SRS
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
|
| Gene Symbol |
SMS
SRS
MRXSSR
|
| Scope Statement | Carrier females are normal [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Caused by mutation in the spermine synthase gene (SMS, 300105.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xp22.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 309583
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796160
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |