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Disease Ontology Browser
microcephalic osteodysplastic primordial dwarfism type II (DOID:0060609)
Alliance: disease page
Synonyms: Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II
Alt IDs: OMIM:210720, ICD10CM:Q87.1, MESH:C565898, ORDO:2637
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory