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ONTOLOGY REPORT - ANNOTATIONS


Term:Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
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Accession:DOID:9009363 term browser browse the term
Definition:FHEIG is caused by heterozygous mutation in the KCNK4 gene on chromosome 11q13. (OMIM)
Synonyms:exact_synonym: FHEIG
 primary_id: OMIM:618381
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Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnk4 potassium two pore domain channel subfamily K member 4 JBrowse link 1 222,182,997 222,192,139 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        intellectual disability 1589
          Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            disease of mental health 4324
              developmental disorder of mental health 2591
                specific developmental disorder 1759
                  intellectual disability 1589
                    Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth 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.