ONTOLOGY REPORT - ANNOTATIONS


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: KPLBS
 primary_id: OMIM:614098;   RDO:9001621
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Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Keppen-Lubinsky Syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Keppen-Lubinsky Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.