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ONTOLOGY REPORT - ANNOTATIONS


Term:mulibrey nanism
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Accession:DOID:0050436 term browser browse the term
Definition:Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
Synonyms:exact_synonym: 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;   RDO:0004530;   RDO:0004531
 xref: GARD:95;   NCI:C84906
For additional species annotation, visit the Alliance of Genome Resources.


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mulibrey nanism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir301a microRNA 301a JBrowse link 10 74,417,746 74,417,845 RGD:8554872
G Prr11 proline rich 11 JBrowse link 10 74,393,683 74,436,073 RGD:8554872
G Ska2 spindle and kinetochore associated complex subunit 2 JBrowse link 10 74,413,989 74,431,922 RGD:8554872
G Trim37 tripartite motif-containing 37 JBrowse link 10 74,436,165 74,568,636 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      endocrine system disease 4798
        Dwarfism 308
          mulibrey nanism 4
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                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.