Search Ontology:
Human Disease

microcephalic osteodysplastic primordial dwarfism type II

Term ID
DOID:0060609
Synonyms
  • Majewski osteodysplastic primordial dwarfism type II
  • osteodysplastic primordial dwarfism type II
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. (2)
References
Ontology
Human Disease   ( DOID:0060609 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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