Search Ontology:
Human Disease

primary autosomal recessive microcephaly 19

Term ID
DOID:0070281
Synonyms
  • MCPH19
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. https://www.ncbi.nlm.nih.gov/pubmed/29036432
References
Ontology
Human Disease   ( DOID:0070281 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models