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Disease Ontology Browser
microcephalic osteodysplastic primordial dwarfism type II (DOID:0060609)
Synonyms: Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II
Alt IDs: OMIM:210720, ICD10CM:Q87.1, ORDO:2637
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory