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
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mulibrey nanism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 14823
    disease of anatomical entity 13997
      endocrine system disease 4666
        Dwarfism 300
          mulibrey nanism 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                mulibrey nanism 1
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.