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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: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
 primary_id: MESH:C537577
 alt_id: OMIM:210710
 xref: GARD:5120;   ORDO:2636


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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: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital nervous system abnormality 1489
        microcephaly 1124
          Microcephalic Osteodysplastic Primordial Dwarfism 3
            microcephalic osteodysplastic primordial dwarfism type I 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    microcephaly 1124
                      Microcephalic Osteodysplastic Primordial Dwarfism 3
                        microcephalic osteodysplastic primordial dwarfism type I 2
paths to the root