primary autosomal recessive microcephaly 5

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Summary

Literature (0)

DOID:0070280 - primary autosomal recessive microcephaly 5

Disease Ontology Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.

Synonyms: MCPH5

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aspm

MIM:

MIM:608716 - microcephaly 5, primary, autosomal recessive; mcph5

MIM:608716 - microcephaly 5, primary, autosomal recessive; mcph5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): primary autosomal recessive microcephaly (is_a)