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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301040
http://purl.bioontology.org/ontology/OMIM/301040
|
|---|---|
| Preferred Name | ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED |
| Synonyms |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE
ATR-X SYNDROME
ATRX
ATR, NONDELETION TYPE
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE
ATR-X SYNDROME
ATRX
ATR, NONDELETION TYPE
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
|
|---|---|
| prefLabel | ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED
|
| Gene Symbol |
XH2
SHS
SFM1
MRXHF1
XNP
ATRX
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| Scope Statement | Variable phenotype [MISCELLANEOUS]
Caused by mutation in the ATRX chromatin remodeler gene (ATRX, 300032.0001) [MOLECULAR BASIS]
X-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301040
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1845055
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| Moved from | 300465
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |