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Summary Literature (2)
DOID:0060609 - microcephalic osteodysplastic primordial dwarfism type II

Disease Ontology Definition:An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.

Synonyms: Majewski osteodysplastic primordial dwarfism type II, osteodysplastic primordial dwarfism type II,

Xenbase Genes : pcnt

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)