OBO ID: DOID:0070062
Term Name: Arboleda-Tham syndrome Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:0070062 )
Relationships
is a type of:
OTHER Arboleda-Tham syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KAT6A Arboleda-Tham syndrome 616268
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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