OBO ID: DOID:0060609
Term Name: microcephalic osteodysplastic primordial dwarfism type II Search Ontology:
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 microcephalic osteodysplastic primordial dwarfism type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCNT Microcephalic osteodysplastic primordial dwarfism, type II 210720
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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