RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
microcephalic osteodysplastic primordial dwarfism type I
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. (DO)
Synonyms:
exact_synonym:
Mopd 1; Mopd I; Mopd1; MopdI; TALS; Taybi Linder syndrome; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; microcephalic osteodysplastic primordial dwarfism type 1; osteodysplastic primordial dwarfism, type 1; osteodysplastic primordial dwarfism, type I
ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar Annotator: match by term: Taybi Linder syndrome ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar Annotator: match by term: Taybi Linder syndrome
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