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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301032
http://purl.bioontology.org/ontology/OMIM/301032
|
|---|---|
| Preferred Name | BASILICATA-AKHTAR SYNDROME |
| Synonyms |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36
MENTAL RETARDATION, X-LINKED, SYNDROMIC 36
MRXSBA
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BASILICATA-AKHTAR TYPE
MRXS36
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36
MENTAL RETARDATION, X-LINKED, SYNDROMIC 36
MRXSBA
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BASILICATA-AKHTAR TYPE
MRXS36
|
|---|---|
| prefLabel | BASILICATA-AKHTAR SYNDROME
|
| Gene Symbol |
MSL3L1
MRXSBA
MSL3
|
| Scope Statement | Caused by mutation in the male-specific lethal 3, Drosophila, homolog of, gene (MSL3, 300609.0001) [MOLECULAR BASIS]
Males and females are similarly affected [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xp22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301032
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231394
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |