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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:mulibrey nanism
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Accession:DOID:0050436 term browser browse the term
Definition:A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO)
Synonyms:exact_synonym: MUL;   Perheentupa syndrome;   TRIM37-RELATED CONDITION;   mulibrey growth disorder;   mulibrey nanism syndrome;   muscle liver brain eye nanism;   pericardial constriction and growth failure;   pericardial constriction with growth failure
 primary_id: MESH:D050336
 alt_id: MESH:C538604;   OMIM:253250
 xref: GARD:95;   NCI:C84906;   ORDO:2576

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mulibrey nanism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar NCBI chrNW_004624760:521,145...575,431 JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:25741868 NCBI chrNW_004624871:753,327...902,384
Ensembl chrNW_004624871:753,292...898,362 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chrNW_004624871:1,049,663...1,086,751
Ensembl chrNW_004624871:1,050,049...1,085,982 		JBrowse link
G Trim37 tripartite motif containing 37 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome | ClinVar Annotator: match by term: TRIM37-related condition OMIM
ClinVar		 PMID:9536098 PMID:10888877 PMID:12754710 PMID:15108285 PMID:15885686 More... NCBI chrNW_004624871:899,931...1,049,583
Ensembl chrNW_004624871:912,140...1,021,354 		JBrowse link
G Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Perheentupa syndrome ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 More... NCBI chrNW_004624736:1,972,654...2,516,053
Ensembl chrNW_004624736:1,660,831...2,514,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    syndrome 9294
      mulibrey nanism 5
Path 2
Term Annotations click to browse term
  disease 14102
    Developmental Disease 12293
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11525
        genetic disease 11216
          monogenic disease 9421
            autosomal genetic disease 8754
              autosomal recessive disease 6180
                mulibrey nanism 5
paths to the root