microcephalic osteodysplastic primordial dwarfism type I
http://purl.obolibrary.org/obo/MONDO_0008871
A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. [ OMIM:210710 PMID:22302400 DOID:0060608 ]
Term info
- SCTID:254102008 (MONDO:equivalentTo)
- DOID:0060608 (MONDO:equivalentTo)
- OMIM:210710 (MONDO:equivalentTo)
https://github.com/monarch-initiative/mondo/issues/4948
A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.
https://omim.org/entry/210710, http://purl.obolibrary.org/obo/DOID_0060608, http://identifiers.org/snomedct/254102008
cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia, brachymelic primordial dwarfism, osteodysplastic primordial dwarfism type I
Cephaloskeletal dysplasia, MOPD 1, microcephalic osteodysplastic primordial dwarfism, type I, osteodysplastic primordial dwarfism, type 1, Taybi-Linder syndrome, Brachymelic primordial dwarfism, MOPD1, microcephalic osteodysplastic primordial dwarfism, type 1
MONDO:0008871