ONTOLOGY REPORT - ANNOTATIONS


Term:Lenz Majewski Hyperostotic Dwarfism
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Accession:DOID:9002918 term browser browse the term
Synonyms:exact_synonym: Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis;   LENZ-MAJEWSKI HYPEROSTOSIS SYNDROME;   LENZ-MAJEWSKI SYNDROME;   LMHD;   Multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis
 primary_id: MESH:C537115;   RDO:0002886
 alt_id: OMIM:151050
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Lenz Majewski Hyperostotic Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptdss1 phosphatidylserine synthase 1 JBrowse link 7 71,294,140 71,356,153 RGD:7240710
RGD:11554173
RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    Developmental Diseases 7711
      bone development disease 891
        Lenz Majewski Hyperostotic Dwarfism 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Lenz Majewski Hyperostotic Dwarfism 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.