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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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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: Mopd;   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
 primary_id: MESH:C537577
 alt_id: OMIM:210710
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:21474760, PMID:21474761, PMID:21977988, PMID:22581640, PMID:25741868, PMID:25741869, PMID:26522830 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    physical disorder 982
      congenital nervous system abnormality 533
        microcephaly 431
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            microcephalic osteodysplastic primordial dwarfism type I 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                complex cortical dysplasia with other brain malformations 741
                  Malformations of Cortical Development, Group I 595
                    microcephaly 431
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        microcephalic osteodysplastic primordial dwarfism type I 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.