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ONTOLOGY REPORT - ANNOTATIONS


Term:3-M syndrome
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Accession:DOID:0060241 term browser browse the term
Definition:An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)
Synonyms:exact_synonym: 3M syndrome;   Dolichospondylic Dysplasia;   Gloomy Face Syndrome;   Le Merrer syndrome;   Miller-McKusick-Malvaux syndrome;   Miller-McKusick-Malvaux-Syndrome (3M Syndrome);   Three M Syndrome;   Three-M Slender-Boned Nanism;   Yakut Short Stature Syndrome
 narrow_synonym: GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME
 primary_id: MESH:C535314
 alt_id: RDO:0000360
 xref: GARD:5667;   OMIM:PS273750;   ORDO:2616
For additional species annotation, visit the Alliance of Genome Resources.


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3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:13592920
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:11554173
G Obsl1 obscurin like cytoskeletal adaptor 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
RGD:13592920
Three M Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:7240710
G Obsl1 obscurin like cytoskeletal adaptor 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Obsl1 obscurin like cytoskeletal adaptor 1 JBrowse link 9 82,673,871 82,699,577 RGD:7240710
RGD:8554872
Three M Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        Dwarfism 308
          3-M syndrome 3
            Three M Syndrome 1 2
            Three M Syndrome 2 1
            Three M Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                3-M syndrome 3
                  Three M Syndrome 1 2
                  Three M Syndrome 2 1
                  Three M Syndrome 3 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.