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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Lenz-Majewski hyperostotic dwarfism
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Accession:DOID:0111507 term browser browse the term
Definition:A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. (DO)
Synonyms:exact_synonym: LMHD;   Lenz-Majewski hyperostosis syndrome;   Lenz-Majewski syndrome;   delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptdss1 phosphatidylserine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome		 OMIM
CTD
ClinVar		 PMID:2773987 PMID:10756342 PMID:15194948 PMID:24241535 PMID:25741868 More... NCBI chr 7:63,845,017...63,906,791
Ensembl chr 7:63,844,268...63,906,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Lenz-Majewski hyperostotic dwarfism 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    Lenz-Majewski hyperostotic dwarfism 1
paths to the root