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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:Lessel-Kubisch Syndrome
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Accession:DOID:9004277 term browser browse the term
Definition:A disease characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes.
Synonyms:exact_synonym: LSKB
 alt_id: OMIM:618681
 xref: EFO:0010632

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Lessel-Kubisch Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdm2 MDM2 proto-oncogene ISO ClinVar Annotator: match by term: Lessel-kubisch syndrome ClinVar
OMIM		 PMID:28846075 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      Premature Aging 69
        Lessel-Kubisch Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2150
              Dwarfism 780
                Lessel-Kubisch Syndrome 1
paths to the root