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macrocephaly-autism syndrome

^ http://purl.obolibrary.org/obo/MONDO_0011537

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. [ PMID:15805158 DOID:0060867 PMID:1719811 ]

Term info

database cross reference
  • Orphanet:210548 (OMIM:605309)
  • UMLS:C1854416 (Orphanet:210548)
  • DOID:0060867 (MONDO:equivalentTo)
  • OMIM:605309 (Orphanet:210548/e)
  • MESH:C565342 (MONDO:equivalentTo)
Subsets

ordo_disease

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.

exactMatch

http://identifiers.org/mesh/C565342, https://omim.org/entry/605309, http://linkedlifedata.com/resource/umls/id/C1854416, http://purl.obolibrary.org/obo/Orphanet_210548, http://purl.obolibrary.org/obo/DOID_0060867

has exact synonym

macrocephaly-intellectual disability-autism syndrome

has related synonym

macrocephaly/autism syndrome

id

MONDO:0011537