Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 PTDSS1 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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 NCBI chr 7:71,294,140...71,356,153
Ensembl chr 7:71,293,388...71,356,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Lenz-Majewski hyperostotic dwarfism 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    Lenz-Majewski hyperostotic dwarfism 1
paths to the root