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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

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      bone development disease 891
        Lenz Majewski Hyperostotic Dwarfism 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Lenz Majewski Hyperostotic Dwarfism 1
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