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DOID:0060609 - microcephalic osteodysplastic primordial dwarfism type II
Disease Ontology Definition:A 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,
Echinobase Genes :
MIM:210720 - microcephalic osteodysplastic primordial dwarfism, type ii; mopd2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee