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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:macrocephaly-autism syndrome
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Accession:DOID:0060867 term browser browse the term
Definition:A syndrome 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: MIM:605309
 xref: ORDO:210548


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macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More...
G Pten phosphatase and tensin homolog susceptibility ISO
ISS		 DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)
CTD Direct Evidence: marker/mechanism
OMIM:605309
ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:792966 PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 More... RGD:12832751 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      macrocephaly-autism syndrome 2
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            disease of mental health 8411
              developmental disorder of mental health 5640
                pervasive developmental disorder 2435
                  autism spectrum disorder 2417
                    autistic disorder 1893
                      macrocephaly-autism syndrome 2
paths to the root