|
General Information
|
| Term |
microcephalic osteodysplastic primordial dwarfism type II |
ID (Ontology) |
DOID:0060609 (Human Disease) |
| 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. |
| Also Known As |
"Majewski osteodysplastic primordial dwarfism type II" ; "osteodysplastic primordial dwarfism type II" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
microcephalic osteodysplastic primordial dwarfism type II | 1 | for disease ribbon | microcephalic osteodysplastic primordial dwarfism type II | 1 | model of | microcephalic osteodysplastic primordial dwarfism type II | 1 |
|
Relationships