macrocephaly-autism syndrome

Summary

macrocephaly-autism syndrome is a developmental defect during embryogenesis^[1].

Key Facts

• macrocephaly-autism syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
• macrocephaly-autism syndrome's instance of is recorded as rare disease^[3].
• macrocephaly-autism syndrome's instance of is recorded as class of disease^[4].
• macrocephaly-autism syndrome's subclass of is recorded as autosomal dominant disease^[5].
• macrocephaly-autism syndrome's subclass of is recorded as rare disease with autism^[6].
• macrocephaly-autism syndrome's subclass of is recorded as rare genetic developmental defect during embryogenesis^[7].
• macrocephaly-autism syndrome's subclass of is recorded as other syndrome with a central nervous system malformation as major feature^[8].
• macrocephaly-autism syndrome's MeSH descriptor ID is recorded as C565342^[9].
• macrocephaly-autism syndrome's OMIM ID is recorded as 605309^[10].
• macrocephaly-autism syndrome's Disease Ontology ID is recorded as DOID:0060867^[11].
• macrocephaly-autism syndrome's Orphanet ID is recorded as 210548^[12].
• macrocephaly-autism syndrome's genetic association is recorded as PTEN^[13].
• macrocephaly-autism syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060867^[14].
• macrocephaly-autism syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060867^[15].
• macrocephaly-autism syndrome's UMLS CUI is recorded as C1854416^[16].
• macrocephaly-autism syndrome's UMLS CUI is recorded as C5190809^[17].
• macrocephaly-autism syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine^[18].
• macrocephaly-autism syndrome's Mondo ID is recorded as MONDO_0011537^[19].
• macrocephaly-autism syndrome's UniProt disease ID is recorded as DI-01924^[20].