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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:9006075 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 15608
    Developmental Diseases 8985
      Neurodevelopmental Disorders 4190
        intellectual disability 1798
          Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        central nervous system disease 8545
          brain disease 7901
            disease of mental health 5643
              developmental disorder of mental health 2812
                specific developmental disorder 1975
                  intellectual disability 1798
                    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.