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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 15553
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        intellectual disability 1721
          Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    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.