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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616268
http://purl.bioontology.org/ontology/OMIM/616268
|
|---|---|
| Preferred Name | ARBOLEDA-THAM SYNDROME |
| Synonyms |
ARTHS
KAT6A SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, FORMERLY
MRD32, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ARTHS
KAT6A SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, FORMERLY
MRD32, FORMERLY
|
|---|---|
| prefLabel | ARBOLEDA-THAM SYNDROME
|
| Gene Symbol |
MOZ
ARTHS
ZNF220
KAT6A
MYST3
|
| Scope Statement | Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001) [MOLECULAR BASIS]
All reported mutations have occurred de novo [MISCELLANEOUS]
Facial dysmorphic features are variable [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8p11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616268
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225396
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |