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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-KREIENKAMP SYNDROME
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Accession:DOID:9003372 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood.
Synonyms:exact_synonym: LESKRES
 primary_id: OMIM:619149
For additional species annotation, visit the Alliance of Genome Resources.



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LESSEL-KREIENKAMP SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ago2 argonaute RISC catalytic component 2 ISO ClinVar Annotator: match by term: Lessel-Kreienkamp syndrome OMIM
ClinVar
PMID:25741868 PMID:33199684 NCBI chr 7:105,018,202...105,105,120
Ensembl chr 7:105,029,120...105,104,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        LESSEL-KREIENKAMP SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              Neurodevelopmental Disorders 6147
                LESSEL-KREIENKAMP SYNDROME 1
paths to the root