ZFIN Human Disease: primary autosomal recessive microcephaly 5

OBO ID: DOID:0070280

Term Name:	primary autosomal recessive microcephaly 5		Search Ontology:
Synonyms:	MCPH5
Definition:	A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. https://www.ncbi.nlm.nih.gov/pubmed/12355089
References:	OMIM:608716
Ontology:	Human Disease ( DOID:0070280 )

Relationships

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

OTHER primary autosomal recessive microcephaly 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ASPM	aspm	Microcephaly 5, primary, autosomal recessive	608716

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None