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RGD uses the Human Disease Ontology (DO, 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: OMIM: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
CTD Direct Evidence: marker/mechanism
PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Keppen-Lubinsky Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    Keppen-Lubinsky Syndrome 1
paths to the root