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Summary Literature (1)
DOID:0060608 - microcephalic osteodysplastic primordial dwarfism type I

Disease Ontology Definition:An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.

Synonyms: Taybi-Linder syndrome, brachymelic primordial dwarfism, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia, osteodysplastic primordial dwarfism type I,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008871 - microcephalic osteodysplastic primordial dwarfism type I


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)