ZFIN Human Disease: primary autosomal recessive microcephaly 19

OBO ID: DOID:0070281

Term Name:	primary autosomal recessive microcephaly 19		Search Ontology:
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:	OMIM:617800
Ontology:	Human Disease ( DOID:0070281 )

Relationships

is a type of:	primary autosomal recessive microcephaly primary autosomal recessive microcephaly Show first 5 Terms

OTHER primary autosomal recessive microcephaly 19 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COPB2	copb2	?Microcephaly 19, primary, autosomal recessive	617800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None