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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephalic osteodysplastic primordial dwarfism type I
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Accession:DOID:0060608 term browser browse the term
Definition:A 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: Low-birth-weight dwarfism with skeletal dysplasia;   Mopd;   Mopd 1;   Mopd I;   Mopd1;   MopdI;   TALS;   Taybi Linder syndrome;   brachymelic primordial dwarfism;   cephaloskeletal dysplasia;   microcephalic osteodysplastic primordial dwarfism type 1;   osteodysplastic primordial dwarfism, type 1;   osteodysplastic primordial dwarfism, type I
 primary_id: MESH:C537577
 alt_id: OMIM:210710;   RDO:0003442
 xref: GARD:5120;   ORDO:2636
For additional species annotation, visit the Alliance of Genome Resources.


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microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            microcephalic osteodysplastic primordial dwarfism type I 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        microcephalic osteodysplastic primordial dwarfism type I 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.