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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;   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


show annotations for term's descendants           Sort by:
mulibrey nanism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir301a microRNA 301a ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chr10:71,925,336...71,925,435
Ensembl chr10:71,925,336...71,925,435 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:25741868 NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012 		JBrowse link
G Ska2 spindle and kinetochore associated complex subunit 2 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO
ISS		 OMIM:253250
ClinVar Annotator: match by term: Mulibrey nanism syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:10888877 PMID:12754710 PMID:14757854 PMID:15108285 PMID:15885686 More... NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558 		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 chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      mulibrey nanism 7
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          monogenic disease 10256
            autosomal genetic disease 9403
              autosomal recessive disease 6471
                mulibrey nanism 7
paths to the root