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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;   Mulibrey growth disorder;   Perheentupa syndrome;   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
For additional species annotation, visit the Alliance of Genome Resources.


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 chr10:74,417,746...74,417,845
Ensembl chr10:74,417,746...74,417,845
JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chr10:74,393,683...74,436,073
Ensembl chr10:74,393,699...74,413,745
JBrowse link
G Ska2 spindle and kinetochore associated complex subunit 2 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome ClinVar PMID:21681106 NCBI chr10:74,413,989...74,431,922
Ensembl chr10:74,413,989...74,431,922
JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Mulibrey nanism syndrome
ClinVar Annotator: match by OMIM:253250
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10888877, PMID:12754710, PMID:14757854, PMID:15108285, PMID:15885686, PMID:17100991, PMID:17551331, PMID:21681106, PMID:25741868, PMID:28492532 NCBI chr10:74,436,165...74,568,636
Ensembl chr10:74,436,208...74,568,493
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      mulibrey nanism 4
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                mulibrey nanism 4
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.