Search Ontology:
Human Disease
Arboleda-Tham syndrome
- Term ID
- DOID:0070062
- Synonyms
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- ARTHS
- autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- autosomal dominant mental retardation 32
- autosomal dominant non-syndromic intellectual disability 32
- MRD32
- Definition
- An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. https://www.ncbi.nlm.nih.gov/pubmed/25728775
- References
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- MIM:616268
- ORDO:457193
- Ontology
- Human Disease ( DOID:0070062 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models