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ONTOLOGY REPORT - ANNOTATIONS


Term:macrocephaly-autism syndrome
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Accession:DOID:0060867 term browser browse the term
Definition:An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: autism spectrum disorder (ASD) with macrocephaly;   autism spectrum disorder and macrocephaly;   macrocephaly-intellectual disability-autism syndrome
 primary_id: MESH:C565342
 alt_id: OMIM:605309;   RDO:0014007
 xref: ORDO:210548
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macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710
RGD:8554872
RGD:11554173
RGD:12832751

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  disease 15619
    syndrome 5154
      macrocephaly-autism syndrome 2
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                pervasive developmental disorder 1705
                  autism spectrum disorder 1699
                    autistic disorder 1550
                      macrocephaly-autism syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.