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ONTOLOGY REPORT - ANNOTATIONS


Term:Lenz-Majewski hyperostotic dwarfism
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Accession:DOID:0111507 term browser browse the term
Definition:An autosomal dominant disease characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1. (DO)
Synonyms:exact_synonym: Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis;   LENZ-MAJEWSKI HYPEROSTOSIS SYNDROME;   LMHD;   Lenz-Majewski syndrome;   multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis
 primary_id: MESH:C537115
 alt_id: OMIM:151050
 xref: GARD:3223;   ORDO:2658
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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
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  disease 0
    Developmental Diseases 8822
      bone development disease 1006
        Lenz-Majewski hyperostotic dwarfism 1
Path 2
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  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        central nervous system disease 8254
          brain disease 7600
            disease of mental health 5554
              developmental disorder of mental health 2729
                specific developmental disorder 1895
                  intellectual disability 1720
                    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.