Term:Marshall-Smith syndrome
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Accession:DOID:0050858 term browser browse the term
Definition:A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)
Synonyms:exact_synonym: MRSHSS
 primary_id: MESH:C536026;   RDO:0001438
 alt_id: OMIM:602535
 xref: GARD:6985;   ORDO:561
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Marshall-Smith syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Ier2 immediate early response 2 JBrowse link 19 25,774,146 25,775,670 RGD:8554872
G Lyl1 LYL1, basic helix-loop-helix family member JBrowse link 19 25,815,207 25,818,074 RGD:8554872
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:8554872
G Nf1x nuclear factor 1 X JBrowse link 19 25,818,640 25,914,777 RGD:7240710
G Trmt1 tRNA methyltransferase 1 JBrowse link 19 25,798,262 25,813,458 RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      Marshall-Smith syndrome 6
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              septooptic dysplasia 10
                Marshall-Smith syndrome 6
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