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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:Keppen-Lubinsky Syndrome
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Accession:DOID:9007674 term browser browse the term
Definition:A very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and characteristic dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth. (OMIM)
Synonyms:exact_synonym: KCNJ6-RELATED CONDITION;   KPLBS
 primary_id: MIM:614098;   RDO:9001621


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Keppen-Lubinsky Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar		 PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chr11:47,531,312...47,778,348
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Keppen-Lubinsky Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    Keppen-Lubinsky Syndrome 1
paths to the root