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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: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital nervous system abnormality 1362
        microcephaly 1103
          Microcephalic Osteodysplastic Primordial Dwarfism 4
            microcephalic osteodysplastic primordial dwarfism type I 3
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Microcephalic Osteodysplastic Primordial Dwarfism 4
                        microcephalic osteodysplastic primordial dwarfism type I 3
paths to the root