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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:MARBACH-RUSTAD PROGEROID SYNDROME
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Accession:DOID:9009262 term browser browse the term
Definition:This disease is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor.
Synonyms:exact_synonym: MARUPS
 broad_synonym: LEMD2-RELATED CONDITION
 primary_id: MIM:619322


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MARBACH-RUSTAD PROGEROID SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: LEMD2-related condition | ClinVar Annotator: match by term: Marbach-Rustad progeroid syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30905398 NCBI chr 6:33,344,372...33,363,143 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15809
    syndrome 10611
      progeroid syndrome 28
        MARBACH-RUSTAD PROGEROID SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15809
    Pathological Conditions, Signs and Symptoms 12328
      Pathologic Processes 7704
        Disease Attributes 888
          Facies 512
            MARBACH-RUSTAD PROGEROID SYNDROME 1
paths to the root