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| Term | microcephalic osteodysplastic primordial dwarfism type I | ID (Ontology) | DOID:0060608 (Human Disease) |
| 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. | ||
| Also Known As | "brachymelic primordial dwarfism" ; "cephaloskeletal dysplasia" ; "low-birth-weight dwarfism with skeletal dysplasia" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ bone development disease | |__osteochondrodysplasia________| cartilage disease | |__osteochondrodysplasia________| microcephalic osteodysplastic primordial dwarfism type I |
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| Is a |
autosomal recessive disease osteochondrodysplasia |
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GARD:5120 ICD10CM:Q87.1 MESH:C537577 MIM:210710 ORDO:2636 |
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